Pathologic conditions affecting the BRAIN, which is composed of the intracranial components of the CENTRAL NERVOUS SYSTEM. This includes (but is not limited to) the CEREBRAL CORTEX; intracranial white matter; BASAL GANGLIA; THALAMUS; HYPOTHALAMUS; BRAIN STEM; and CEREBELLUM.
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.
Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero.
Inflammation of the BRAIN due to infection, autoimmune processes, toxins, and other conditions. Viral infections (see ENCEPHALITIS, VIRAL) are a relatively frequent cause of this condition.
Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.
Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing.
Any of various diseases affecting the white matter of the central nervous system.
Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function.
Changes in the amounts of various chemicals (neurotransmitters, receptors, enzymes, and other metabolites) specific to the area of the central nervous system contained within the head. These are monitored over time, during sensory stimulation, or under different disease states.
A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)
Specialized non-fenestrated tightly-joined ENDOTHELIAL CELLS with TIGHT JUNCTIONS that form a transport barrier for certain substances between the cerebral capillaries and the BRAIN tissue.
The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the NERVOUS SYSTEM.
Acute and chronic (see also BRAIN INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and BRAIN STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits.
Self-renewing cells that generate the main phenotypes of the nervous system in both the embryo and adult. Neural stem cells are precursors to both NEURONS and NEUROGLIA.
Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain.
A class of large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord. Astrocytes (from "star" cells) are irregularly shaped with many long processes, including those with "end feet" which form the glial (limiting) membrane and directly and indirectly contribute to the BLOOD-BRAIN BARRIER. They regulate the extracellular ionic and chemical environment, and "reactive astrocytes" (along with MICROGLIA) respond to injury.
A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior.
Imaging techniques used to colocalize sites of brain functions or physiological activity with brain structures.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
The third type of glial cell, along with astrocytes and oligodendrocytes (which together form the macroglia). Microglia vary in appearance depending on developmental stage, functional state, and anatomical location; subtype terms include ramified, perivascular, ameboid, resting, and activated. Microglia clearly are capable of phagocytosis and play an important role in a wide spectrum of neuropathologies. They have also been suggested to act in several other roles including in secretion (e.g., of cytokines and neural growth factors), in immunological processing (e.g., antigen presentation), and in central nervous system development and remodeling.
A curved elevation of GRAY MATTER extending the entire length of the floor of the TEMPORAL HORN of the LATERAL VENTRICLE (see also TEMPORAL LOBE). The hippocampus proper, subiculum, and DENTATE GYRUS constitute the hippocampal formation. Sometimes authors include the ENTORHINAL CORTEX in the hippocampal formation.
A technique of inputting two-dimensional images into a computer and then enhancing or analyzing the imagery into a form that is more useful to the human observer.
The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time.
Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function.
A strain of albino rat used widely for experimental purposes because of its calmness and ease of handling. It was developed by the Sprague-Dawley Animal Company.
Spectroscopic method of measuring the magnetic moment of elementary particles such as atomic nuclei, protons or electrons. It is employed in clinical applications such as NMR Tomography (MAGNETIC RESONANCE IMAGING).
Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see HYPOXIA, BRAIN). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of CSF flow (e.g., obstructive HYDROCEPHALUS). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
Histochemical localization of immunoreactive substances using labeled antibodies as reagents.
Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.
The part of the brain that connects the CEREBRAL HEMISPHERES with the SPINAL CORD. It consists of the MESENCEPHALON; PONS; and MEDULLA OBLONGATA.
Localized reduction of blood flow to brain tissue due to arterial obstruction or systemic hypoperfusion. This frequently occurs in conjunction with brain hypoxia (HYPOXIA, BRAIN). Prolonged ischemia is associated with BRAIN INFARCTION.
A circumscribed collection of purulent exudate in the brain, due to bacterial and other infections. The majority are caused by spread of infected material from a focus of suppuration elsewhere in the body, notably the PARANASAL SINUSES, middle ear (see EAR, MIDDLE); HEART (see also ENDOCARDITIS, BACTERIAL), and LUNG. Penetrating CRANIOCEREBRAL TRAUMA and NEUROSURGICAL PROCEDURES may also be associated with this condition. Clinical manifestations include HEADACHE; SEIZURES; focal neurologic deficits; and alterations of consciousness. (Adams et al., Principles of Neurology, 6th ed, pp712-6)
A reduction in brain oxygen supply due to ANOXEMIA (a reduced amount of oxygen being carried in the blood by HEMOGLOBIN), or to a restriction of the blood supply to the brain, or both. Severe hypoxia is referred to as anoxia, and is a relatively common cause of injury to the central nervous system. Prolonged brain anoxia may lead to BRAIN DEATH or a PERSISTENT VEGETATIVE STATE. Histologically, this condition is characterized by neuronal loss which is most prominent in the HIPPOCAMPUS; GLOBUS PALLIDUS; CEREBELLUM; and inferior olives.
The thin layer of GRAY MATTER on the surface of the CEREBRAL HEMISPHERES that develops from the TELENCEPHALON and folds into gyri and sulchi. It reaches its highest development in humans and is responsible for intellectual faculties and higher mental functions.
A condition characterized by long-standing brain dysfunction or damage, usually of three months duration or longer. Potential etiologies include BRAIN INFARCTION; certain NEURODEGENERATIVE DISORDERS; CRANIOCEREBRAL TRAUMA; ANOXIA, BRAIN; ENCEPHALITIS; certain NEUROTOXICITY SYNDROMES; metabolic disorders (see BRAIN DISEASES, METABOLIC); and other conditions.
The application of discoveries generated by laboratory research and preclinical studies to the development of clinical trials and studies in humans. A second area of translational research concerns enhancing the adoption of best practices.
An operating division of the US Department of Health and Human Services. It is concerned with the overall planning, promoting, and administering of programs pertaining to health and medical research. Until 1995, it was an agency of the United States PUBLIC HEALTH SERVICE.
Seizures that occur during a febrile episode. It is a common condition, affecting 2-5% of children aged 3 months to five years. An autosomal dominant pattern of inheritance has been identified in some families. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy (i.e., a nonfebrile seizure disorder) following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. (From Menkes, Textbook of Child Neurology, 5th ed, p784)
The units based on political theory and chosen by countries under which their governmental power is organized and administered to their citizens.
Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA.
Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.
A mitochondrial matrix enzyme that catalyzes the synthesis of L-GLUTAMATE to N-acetyl-L-glutamate in the presence of ACETYL-COA.
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
Derivatives of GLUTAMIC ACID. Included under this heading are a broad variety of acid forms, salts, esters, and amides that contain the 2-aminopentanedioic acid structure.
Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.
A colorless alkaline gas. It is formed in the body during decomposition of organic materials during a large number of metabolically important reactions. Note that the aqueous form of ammonia is referred to as AMMONIUM HYDROXIDE.
A cognitive disorder marked by an impaired ability to comprehend or express language in its written or spoken form. This condition is caused by diseases which affect the language areas of the dominant hemisphere. Clinical features are used to classify the various subtypes of this condition. General categories include receptive, expressive, and mixed forms of aphasia.
The geographic area of New England in general and when the specific state or states are not indicated. States usually included in this region are Maine, New Hampshire, Vermont, Massachusetts, Connecticut, and Rhode Island.
A publication issued at stated, more or less regular, intervals.
A quantitative measure of the frequency on average with which articles in a journal have been cited in a given period of time.
A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
"The business or profession of the commercial production and issuance of literature" (Webster's 3d). It includes the publisher, publication processes, editing and editors. Production may be by conventional printing methods or by electronic publishing.

Proton MR spectroscopy of Sjogren-Larsson's syndrome. (1/60)

We performed single-voxel proton MR spectroscopy (1H-MRS) in two children with Sjogren-Larsson's syndrome (SLS). Both patients showed two abnormal spectral peaks at 1.3 ppm and 0.9 ppm that were obtained with short echo times. These two abnormal spectral peaks were seen in high-intensity areas on T2-weighted images and also in basal ganglia of normal intensities. 1H-MRS may be useful for establishing the diagnosis and investigating the natural history of SLS, and for evaluating the efficacy of therapeutic approaches to SLS.  (+info)

Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie) (2/60)

Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin (Tf). Two patients with these symptoms and similar abnormal Tf IEF patterns were analyzed by metabolic labeling of fibroblasts with inverted question mark2-(3)Hmannose. The patients produced a truncated dolichol-linked precursor oligosaccharide with 5 mannose residues, instead of the normal precursor with 9 mannose residues. Addition of 250 microM mannose to the culture medium corrected the size of the truncated oligosaccharide. Microsomes from fibroblasts of these patients were approximately 95% deficient in dolichol-phosphate-mannose (Dol-P-Man) synthase activity, with an apparent K(m) for GDP-Man approximately 6-fold higher than normal. DPM1, the gene coding for the catalytic subunit of Dol-P-Man synthase, was altered in both patients. One patient had a point mutation, C(274)G, causing an R(92)G change in the coding sequence. The other patient also had the C(274)G mutation and a 13-bp deletion that presumably resulted in an unstable transcript. Defects in DPM1 define a new glycosylation disorder, CDG-Ie.  (+info)

Extensive intracranial xanthoma associated with type II hyperlipidemia. (3/60)

Xanthomas are associated with a spectrum of medical conditions, most commonly disorders of lipid storage and lipid metabolism. They occur primarily in the subcutaneous tissues, especially along the Achilles tendon and the extensor tendons of the hands. Intracranial xanthomas are extremely rare. We present a case of an extensive xanthoma of the temporal bone in a patient with hyperlipidemia.  (+info)

Mutation analysis in glutaric aciduria type I. (4/60)

Glutaric aciduria type 1 (GA1), resulting from the genetic deficiency of glutaryl-CoA dehydrogenase (GDH), is a relatively common cause of acute metabolic brain damage in infants. Encephalopathic crises may be prevented by carnitine supplementation and diet, but diagnosis can be difficult as some patients do not show the typical excretion of large amounts of glutaric and 3-hydroxyglutaric acids in the urine. We present a rapid and efficient denaturing gradient gel electrophoresis (DGGE) method for the identification of mutations in the glutaryl-CoA dehydrogenase (GCDH) gene that may be used for the molecular diagnosis of GA1 in a routine setting. Using this technique, we identified mutations on both alleles in 48 patients with confirmed GDH deficiency, while no mutations were detected in other patients with clinical suspicion of GA1 but normal enzyme studies. There was a total of 38 different mutations; 27 mutations were found in single patients only, and 21 mutations have not been previously reported. Fourteen mutations involved hypermutable CpG sites. The commonest GA1 mutation in Europeans is R402W, which accounts for almost 40% of alleles in patients of German origin. GCDH gene haplotypes were determined through the analysis of polymorphic markers in all families, and three CpG mutations were associated with different haplotypes, possibly reflecting independent recurrence. The high sensitivity of the DGGE method allows the rapid and cost efficient diagnosis of GA1 in instances where enzyme analyses are not available or feasible, despite the marked heterogeneity of the disease.  (+info)

Abnormal vertical optokinetic nystagmus in infants and children. (5/60)

AIMS: To determine if testing vertical optokinetic nystagmus (VOKN) has a role in the clinical assessment of infants and children. METHODS: A large field projection system was developed with which optokinetic nystagmus (OKN) could be stimulated in any direction. Gross abnormalities in the response were detected simply by observation. RESULTS: VOKN was tested in 144 children using this OKN projection system. 26 of these children had abnormal VOKN; 13 had a vertical saccade initiation failure "ocular motor apraxia" (in either direction, up/down, or in both) and 13 had absent VOKN (in either direction, up/down, or in both). Nine of the children with an up and/or down vertical saccade initiation failure (VSIF) had a neurometabolic disease (two had Niemann-Pick disease type C, five had Gaucher disease type III, one had Gaucher disease type II, and one had Gaucher disease type I). Five children with a VSIF had an abnormality identified by a magnetic resonance imaging (MRI) scan of the brain. In two of these children there was a focal lesion of the rostral midbrain. In 11 of the children with absent up and/or down VOKN an MRI scan revealed an abnormality. This involved the brainstem and/or the cerebellum in 10. Absent up and/or down VOKN was found in association with Joubert syndrome, Leigh disease, and cerebral palsy. CONCLUSION: VOKN testing has a useful role in detecting neurological abnormalities in infants and children. Detection of abnormal VOKN should indicate further investigations for a neurometabolic disease or an abnormality involving the cortex, brainstem, and/or cerebellum. Abnormal VOKN but normal horizontal OKN is highly suggestive of a rostral midbrain lesion.  (+info)

Cytochrome c oxidase-deficient patients have distinct subunit assembly profiles. (6/60)

Cytochrome c oxidase (COX) deficiency is the most common respiratory chain defect in childhood and is clinically heterogeneous. We report a study of six patients with COX deficiencies. Two of the patients had as yet undefined defects, three patients had Surf-1 mutations, and one patient had a 15-base pair deletion in the COX III subunit. We show that quantitative measurements of steady-state levels of subunits by monoclonal antibody reactivity, when used in combination with a discontinuous sucrose gradient methods, provide an improved diagnosis of COX deficiencies by distinguishing between kinetic, stability, and assembly defects. The two mutants of undefined etiology had a full complement of subunits with one stable and the other partially unstable to detergent solubilization. Both are likely to carry mutations in nuclear-encoded subunits of the complex. The three Surf-1 mutants and the COX III mutant each had reduced steady-state levels of subunits but variable associations of the residual subunits. This information, as well as aiding in diagnosis, helps in understanding the genotype-phenotype relationships of COX deficiencies and provides insight into the mechanism of assembly of the enzyme complex.  (+info)

MR brain imaging of fucosidosis type I. (7/60)

SUMMARY: Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly, recurrent respiratory infections, and growth retardation. Fucosidosis type I rapidly evolves toward a progressive neurologic deterioration and death. We report MR imaging findings of the brain of three patients with fucosidosis type I, including previously unreported findings, to expand the knowledge of the neuroradiologic spectrum of the disease.  (+info)

A new neurological entity manifesting as involuntary movements and dysarthria with possible abnormal copper metabolism. (8/60)

A few patients with an affected CNS involving abnormalities in copper metabolism have been described that do not fit any known nosological entities such as Wilson's disease or Menkes' disease. Three sporadic patients (two men and one woman) were examined with involuntary movements and dysarthria associated with abnormal concentrations of serum copper, serum ceruloplasmin, and urinary copper excretion. The onset of neurological symptoms occurred at the age of 15 to 17 years. The common clinical symptoms were involuntary movements and dysarthria. The involuntary movements included dystonia in the neck, myoclonus in the shoulder, athetosis in the neck, and rapid orobuccal movements. The dysarthria consisted of unclear, slow, and stuttering speech. Two of the three patients did not have dementia. A cousin of the female patient had been diagnosed as having Wilson's disease and had died of liver cirrhosis. Laboratory findings showed a mild reduction in serum copper and ceruloplasmin concentrations, whereas urinary copper excretion was significantly reduced in all three patients. Two of the three patients showed a high signal intensity in the basal ganglia on T2 weighted brain MRI. In conclusion, the unique findings of involuntary movements, dysarthria, and abnormal serum copper and urinary copper concentrations suggest that the three patients may constitute a new clinical entity that is distinct from either Wilson's or Menkes disease.  (+info)

D-2-Hydroxyglutaric aciduria has been observed in patients with extremely variable clinical symptoms, creating doubt about the existence of a disease entity related to the biochemical finding. An international survey of patients with D-2-hydroxyglutaric aciduria was initiated to solve this issue. Th …
Ethylmalonic encephalopathy is a rare autosomal recessive disease caused by pathogenic variants in the gene ETHE1. While it is found across multiple ethnicities, many patients have Mediterranean ancestry. Onset is in infancy, and clinical features include severe developmental delay and regression, intellectual disability, ataxia and seizures. Patients also have chronic diarrhea and failure to thrive, and death usually occurs by the age of 10. No genotype-phenotype correlation has been described.. For information about carrier frequency and residual risk, please see the Expanded Carrier Screen brochure.. ...
TY - JOUR. T1 - Apoptotic neurons in brains from paediatric patients with HIV‐I encephalitis and progressive encephalopathy. AU - Gelbard, H. A.. AU - James, H. J.. AU - Sharer, L. R.. AU - Perry, S. W.. AU - Saito, Y.. AU - Kazee, A. M.. AU - Blumberg, S. M.. AU - Epstein, L. G.. PY - 1995/6. Y1 - 1995/6. N2 - The pathogenesis of human immunodeficiency virus type 1 (HIV‐1) associated dementia in adults involves neuronal loss from discrete areas of the neocortex and subcortical regions, but the mechanism for neuronal death is poorly understood. Gene‐directed cell death resulting in apoptosis is thought to be a normal feature of neuronal development, but little is known about neuronal apoptosis in disease states. We investigated whether HIV‐1 infection of the central nervous system is spatially associated with apoptosis of neurons. Using an in situ technique to identify newly cleaved 3′‐OH ends of DNA as a marker for apoptosis, we demonstrate the presence of apoptotic neurons in ...
We identified compound heterozygous loss-of-function mutations in ADAM22 in a patient with rapidly progressing severe encephalopathy with intractable seizures and profound intellectual disability. After initially normal CT scans, a remarkable feature of her disease was the rapidly progressing cerebral atrophy (within only a few weeks) with subdural effusions that became apparent approximately 2 months after seizure onset. The brain imaging changes were very similar to those seen in Menkes syndrome,28,29 and the patients symptoms also resemble those seen in Alpers syndrome.30 The disease course of the patient was also unusual. The progression was very rapid in infancy after the onset of intractable seizures at 3 months of age, following the apparently normal first months of life. Thereafter the condition stabilized, leaving the patient nonambulatory with intractable seizures, and she is still alive at the age of 26 years. A rapidly progressing disease course in infancy may be a characteristic ...
Carlo Viscomi, Alberto B Burlina, Imad Dweikat, Mario Savoiardo, Costanza Lamperti, Tatjana Hildebrandt,Valeria [email protected]& Massimo. Ethylmalonic encephalopathy is caused by mutations in ETHE1, a mitochondrial matrix sulfur dioxygenase, leading to failure to detoxify sulfide, a product of intestinal anaerobes and, in trace amounts, tissues. Metronidazole, a bactericide, or N-acetylcysteine, a precursor of sulfide-buffering glutathione, substantially prolonged the lifespan of Ethe1-deficient mice, with the combined treatment being additive. The same dual treatment caused marked clinical improvement in five affected children, with hardly any adverse or side effects.. ...
Nadege Kammoun Jellouli, Ikhlass Hadj Salem, Emna Ellouz, Zeineb Kamoun, Fatma kamoun, Abdelaziz tlili, Naziha Kaabachi, Chanez Triki, Faiza Fakhfakh, Founder effect confirmation of c.241A,G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria, Journal of Human Genetics, 2014, 59, 4, ...
Somnolence as a symptom in cerebral lesions has been of particular interest since the recent experience with epidemic encephalitis emphasized its incidence and
The functional and structural integrity of the brain requires local adjustment of blood flow and regulated delivery of metabolic substrates to meet the metabolic demands imposed by neuronal activation. This process - neurovascular coupling - and ensued alterations of glucose and oxygen metabolism - neurometabolic coupling - are accomplished by concerted communication between neural and vascular cells. Evidence suggests that neuronal-derived nitric oxide (•NO) is a key player in both phenomena. Alterations in the mechanisms underlying the intimate communication between neural cells and vessels ultimately lead to neuronal dysfunction. Both neurovascular and neurometabolic coupling are perturbed during brain aging and in age-related neuropathologies in close association with cognitive decline. However, despite decades of intense investigation, many aspects remain poorly understood, such as the impact of these alterations. In this review, we address neurovascular and neurometabolic derailment in aging and
Succinic semialdehyde dehydrogenase deficiency (SSADHD), also known as 4-hydroxybutyric aciduria or gamma-hydroxybutyric aciduria, is a rare autosomal recessive disorder of the degradation pathway of the inhibitory neurotransmitter γ-aminobutyric acid, or GABA. The disorder has been identified in approximately 350 families, with a significant proportion being consanguineous families. The first case was identified in 1981 and published in a Dutch clinical chemistry journal that highlighted a person with a number of neurological conditions such as delayed intellectual, motor, speech, and language as the most common manifestations. Later cases reported in the early 1990s began to show that hypotonia, hyporeflexia, seizures, and a nonprogressive ataxia were frequent clinical features as well. SSADH deficiency is caused by an enzyme deficiency in GABA degradation. Under normal conditions, SSADH works with the enzyme GABA transaminase to convert GABA to succinic acid. Succinic acid can then be ...
Objective: To study cortical excitability, electroencephalography patterns, nerve conduction velocity, and sleep patterns, in succinic semialdehyde dehydrogenase (SSADH) deficiency, a rare autosomal recessive pediatric neurotransmitter disease associated with elevated levels of brain gamma aminobutyric acid (GABA), the major inhibitory neurotransmitter. The clinical phenotype includes mental retardation, epilepsy, and neuropsychiatric manifestations.. Study Population: Patients with SSADH deficiency, parents of patients (who are obligate heterozygotes), and healthy volunteers.. Design: This is a natural history study in which subjects will have a series of neurophysiological tests. Transcranial magnetic stimulation (TMS) is a non-invasive technique that allows for measures of cortical excitation and inhibition. Electroencephalography (EEG) measures baseline brain electrical activity. Nerve conduction studies measure the speed of conduction of impulses by peripheral nerves. Polysomnography ...
GABA is a major inhibitory neurotransmitter in the central nervous system. It modulates the activity of several neurotransmitters including dopamine, serotonin, and norepinephrine. GABA is synthesized in a single step from its precursor glutamate by glutamic acid decarboxylase. GABA is metabolized by successive transamination and oxidation to yield succinic semialdehyde and succinic acid respectively via the catalyzing effects of GABA transaminase. The succinic semialdehyde can be converted into either succinic acid by SSADH or to GHB by the enzyme succinic semialdehyde reductase.[7] The absence of SSADH leads to a 30-fold increase of GHB and a 2-4 fold increase of GABA in the brains of patients with SSADH deficiency as compared to normal brain concentrations of the compounds. Elevations of GHB have been shown to induce spike and wave activity similar to that seen in generalized absence epilepsy in animal models as well, which has motivated researchers to increase their knowledge on the ...
GABA is a major inhibitory neurotransmitter in the central nervous system. It modulates the activity of several neurotransmitters including dopamine, serotonin, and norepinephrine. GABA is synthesized in a single step from its precursor glutamate by glutamic acid decarboxylase. GABA is metabolized by successive transamination and oxidation to yield succinic semialdehyde and succinic acid respectively via the catalyzing effects of GABA transaminase. The succinic semialdehyde can be converted into either succinic acid by SSADH or to GHB by the enzyme succinic semialdehyde reductase.[7] The absence of SSADH leads to a 30-fold increase of GHB and a 2-4 fold increase of GABA in the brains of patients with SSADH deficiency as compared to normal brain concentrations of the compounds. Elevations of GHB have been shown to induce spike and wave activity similar to that seen in generalized absence epilepsy in animal models as well, which has motivated researchers to increase their knowledge on the ...
By Judith Van Dongen, WSU Spokane Office of Research. Scientists at Washington State University are leading a new study that will take them one step closer to making treatment options available to patients with a rare inherited disease.. Researchers Jean‑Baptiste Roullet and Mike Gibson of the WSU College of Pharmacy and Pharmaceutical Sciences are conducting a natural history study of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD).. SSADHD is a genetic disorder that is most commonly diagnosed in young children; it disrupts the metabolism of gamma-aminobutyric acid (GABA)-a neurotransmitter that serves to inhibit the activity of nerve cells in the brain-and causes a wide range of neurological symptoms that include developmental delays, motor control problems, absence of speech, and seizures. A natural history study collects health information to understand how a disease develops over time in the absence of treatment.. Funding for the study comes from a $3.2 million grant ...
Low high-density cholesterol in patients with Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy (PEHO) syndrome and PEHO-like patients
The enantiomers of 2-hydroxyglutarate (2HG) are potent regulators of metabolism, chromatin modifications and cell fate decisions. Although these compounds are associated with tumor metabolism and commonly referred to as oncometabolites, both D- and L-2HG are also synthesized by healthy cells and likely serve endogenous functions. The metabolic mechanisms that control 2HG metabolism in vivo are poorly understood. One clue towards how cells regulate 2HG levels has emerged from an inborn error of metabolism known as combined D- and L-2HG aciduria (D-/L-2HGA), which results in elevated D- and L-2HG accumulation. Because this disorder is caused by mutations in the mitochondrial citrate transporter (CIC), citrate must somehow govern 2HG metabolism in healthy cells. The mechanism linking citrate and 2HG, however, remains unknown. Here, we use the fruit fly Drosophila melanogaster to elucidate a metabolic link between citrate transport and L-2HG accumulation. Our study reveals that the Drosophila gene scheggia
A 7-month-old male presented in the ED with head injury and seizure concerns. Bilateral subdural hemorrhages of different ages and multilayered intraretinal hemorrhages in both eyes were found, without bone fractures or cervical spine ligamentous injury. In addition, the patient had a rapid progression of macrocephaly. Analysis of urine organic acids revealed 2-hydroxyglutaric acid (2HGA) and 2-hydroxyglutaric lactone (2HGL) markedly elevated (Figure 1). The presence of either the D-form or the L-form of 2HGA was analyzed (Figure 2).. ...
PEHO syndrome (Progressive encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy) is an autosomal recessive disorder leading to profound psychomotor retardation. The etiology and pathogenesis of the syndrome are unknown. The main clinical findings are severe hypotonia, brisk reflexes, convulsions, profound psychomotor retardation, subcutaneous edema, and absence or early loss of visual fixation. The nature of the syndrome is progressive and most patients die before the age of 15 years.
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4ITA: Structural Basis for a Cofactor-dependent Oxidation Protection and Catalysis of Cyanobacterial Succinic Semialdehyde Dehydrogenase.
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Research Topic: Over 110,000 HIV Ugandan children are at risk for neurocognitive disorders due to the progressive encephalopathy of CNS HIV infection. Even if clinically stable, these children can have motor, attention, memory, visual-spatial processing, and other executive function impairment. One-hundred and fifty school-age children with HIV in Kayunga District, Uganda, will serve as our participants. Fifty of these children will be randomly selected to receive 24 training sessions of a computerized cognitive rehabilitation therapy (CCRT) program called Captains Log, marketed mostly for American children with attention or learning problems. A locked version of Captains Log which does not direct the childs training in a progressive manner will be administered to a second active control group; while a third group will be a passive control group not receiving any computer training intervention. Study Aim 1: To compare the neuropsychological benefit of 24 training sessions of Captains Log ...
Reagents and lentiviral vectors. Octyl-D-2HG ([2R]-2-hydroxyglutaric acid octyl ester), abbreviated as octyl-2HG in the text, and control compound PAMO were custom synthesized by SLR Biosciences and were added to cell culture medium in DMSO as solvent (1 μl per 2 ml culture medium). PAMO has cell permeability characteristics similar to 2HG and is also a control for octanol release. Additional information about reagents can be found in the Supplemental Methods.. Human tissues. We analyzed human breast tumors for tissue levels of D- and L-2-hydroxyglutarate. Collection of these tissues has previously been described (7, 12).. Cell lines. Human nontumorigenic and tumorigenic breast epithelial cell lines, MCF10A, MCF12A, MCF7, and MDA-MB-231, were obtained from American Type Culture Collection. MCF10A and MCF12A cells were cultured in DMEM/F12 (1:1) (Invitrogen/Thermo Fisher Scientific) supplemented with 5% heat-inactivated horse serum (Invitrogen), 500 ng/ml hydrocortisone (MilliporeSigma), 10 ...
Reagents and lentiviral vectors. Octyl-D-2HG ([2R]-2-hydroxyglutaric acid octyl ester), abbreviated as octyl-2HG in the text, and control compound PAMO were custom synthesized by SLR Biosciences and were added to cell culture medium in DMSO as solvent (1 μl per 2 ml culture medium). PAMO has cell permeability characteristics similar to 2HG and is also a control for octanol release. Additional information about reagents can be found in the Supplemental Methods.. Human tissues. We analyzed human breast tumors for tissue levels of D- and L-2-hydroxyglutarate. Collection of these tissues has previously been described (7, 12).. Cell lines. Human nontumorigenic and tumorigenic breast epithelial cell lines, MCF10A, MCF12A, MCF7, and MDA-MB-231, were obtained from American Type Culture Collection. MCF10A and MCF12A cells were cultured in DMEM/F12 (1:1) (Invitrogen/Thermo Fisher Scientific) supplemented with 5% heat-inactivated horse serum (Invitrogen), 500 ng/ml hydrocortisone (MilliporeSigma), 10 ...
Autoimmune patient Kandi was suffering with chronic pain, inflammation, joint pain and fatigue for years. After undergoing my unique and innovative NeuroMetabolic Integration Program, she lost 12 pounds, has less pain, digestion has completely learned up, shes sleeping better and has more energy.. ...
Using Neudexta for Brain Diseases Prevention and Treatment. Learn about the neurological disorders experienced by people and the Nuedexta drug for treatment. ...
WebMD explains categories of brain disease, including those caused by infection and trauma and those caused by vascular, neurodegenerative, and autoimmune disorders.
A new form of brain disease, similar to Creutzfeld-Jakob Disease, could affect more people than previously thought, researchers in the US say.
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A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Glutaric acidemia type III
Genetic testing for the GCDH gene, which is associated with glutaric aciduria type I (GA1) and elevated C5-DC on newborn screening (NBS) or acylcarnitine analysis.
As of March 2016, we compared 17.37 Mb of Sanger DNA sequence generated at PreventionGenetics to NextGen sequence generated in other labs. We detected only 4 errors in our Sanger sequences, and these were all due to allele dropout during PCR. For Proficiency Testing, both external and internal, in the 12 years of our lab operation we have Sanger sequenced roughly 8,800 PCR amplicons. Only one error has been identified, and this was due to sequence analysis error.. Our Sanger sequencing is capable of detecting virtually all nucleotide substitutions within the PCR amplicons. Similarly, we detect essentially all heterozygous or homozygous deletions within the amplicons. Homozygous deletions which overlap one or more PCR primer annealing sites are detectable as PCR failure. Heterozygous deletions which overlap one or more PCR primer annealing sites are usually not detected (see Analytical Limitations). All heterozygous insertions within the amplicons up to about 100 nucleotides in length appear to ...
Rabies is caused by a single-stranded, negative-sense RNA virus, maintained in nature by a variety of animal reservoirs. Rabies virus infects the central nervous system, resulting in progressive encephalopathy and ultimately death in an infected human. Globally, the risk of contracting rabies for humans is greatest in regions of the developing world where dog rabies is enzootic. Where rabies in dogs has been eliminated or otherwise controlled through vaccination programs, the disease can be maintained by wildlife. Wildlife primarily involved in maintenance of transmission cycles are carnivores and bats. Persons having frequent contact with wildlife, such as mammalogists, are at greater risk than the general population for exposure to rabid animals. Rabies prevention can be achieved by elimination of exposure and by vaccination through preexposure prophylaxis and postexposure treatment. Preexposure rabies prophylaxis affords a measure of protection for unrecognized rabies exposures and simplifies
Learn more about [email protected] Aciduria, Type I from related diseases, pathways, genes and PTMs with the Novus Bioinformatics Tool.
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Acidemia, Glutaric Type I. In: Hay, Jr WW, Levin MJ, Deterding RR, Abzug MJ. Hay, Jr W.W., Levin M.J., Deterding R.R., Abzug M.J. Eds. William W. Hay, Jr, et al.eds. Quick Medical Diagnosis & Treatment Pediatrics New York, NY: McGraw-Hill; . http://accesspediatrics.mhmedical.com/content.aspx?bookid=2196§ionid=166955028. Accessed October 22, 2017 ...
Протеин кодиран овим геном је компонента хетеротримерне рибонуклеазе Х типа II (RNAseH2). RNAseH2 је главни извор рибонуклеазне Х активности у ћелијама сисара. Она ендонуклеолитички пресеца рибонуклеотид е Сматра се да уклања Оказакијев фрагмент РНК прајмера током синтезе заостајућег ланца ДНК и да исеца појединачне рибонуклеотиди из ДНК-ДНК дуплекса[1]. ...
Impairments in the production of neurotransmitters may lead to depression in some patients, preliminary results show, opening new avenues for research.
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Brain Diseases: is a broad term for any brain disease that alters brain function or structure. The top three most common brain diseases are - Epilepsy, ALS
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Free Online Library: Crossing the line: technique could treat brain diseases.(This Week) by Science News; Science and technology, general
Junior Seau was living with a degenerative brain disease caused by the brutal shots to the head he took during his NFL career, this according to a new…
TEXTBOOKS. Goodman SI, Frerman FE. Organic acidemias due to defects in lysine oxidation: 2-ketoadipic acidemia and glutaric acidemia. In: Scriver CR, Beaudet AL, Sly WS, et al. Eds. The Metabolic Molecular Basis of Inherited Disease. 7th ed. McGraw-Hill Companies. New York, NY; 1995:1451-60.. JOURNAL ARTICLES. Bahr O, Mader I, Zschocke J, et al. Adult onset glutaric aciduria type I presenting with leukoencephalopathy. Neurology. 2002;59:1802-04.. Kolker S, Ramaekers VT, Zschocke J, et al. Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene. J Pediatr 2001;138:277-79.. Zafeiriou DI, Zschocke J, Augustidou-Savvopoulou P, et al. Atypical and variable clinical presentation of glutaric aciduria type I. Neuropediatrics. 2000;31:303-06.. Kafil-Hussain NA, Monavari A, Bowell R, et al. Ocular findings in glutaric aciduria type I. J Pediatr Ophthalmol Strabismus. 2000;37:289-93.. Busquets C, Coll MJ, Merinero B, et al. Prenatal ...
OVERVIEW: What every practitioner needs to know Are you sure your patient has glutaric aciduria type I? What are the typical findings for this disease? Glutaric aciduria type I (GA-I) should be considered in any patient who has a history of dystonia/dyskinesia with macrocephaly. Prior to these overt chronic neurologic symptoms, there is usually a…. ...
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3-methylglutaconic aciduria type 1 (3MGA1) is a genetic disorder in which the body cannot get energy from a substance called leucine. Leucine is one of the amino acids, which are the building blocks of proteins in our bodies. Because people with 3MGA1 cant break down leucine for energy to support muscle function and growth, they have a variety of symptoms that are present at birth. These symptoms may include developmental delays, seizures, muscle twitches (dystonia), and muscle weakness.. 3MGA1 is caused by a mutation (change) to the AUH gene, which produces a protein to break down leucine. When there is a mutation to the AUH gene, this protein either isnt produced or isnt functional, so the body cant get energy from leucine. Under normal conditions, the protein is present in the part of the cell that produces energy (the mitochondria), so 3MGA1 is a type of mitochondrial disease. 3MGA1 is also an organic acid condition because it causes harmful 3-methylglutaconic acid build up in the ...
However, much later on an infant suffering from glutaric aciduria II will develop macrocephaly. What will trigger the appearance of the symptoms is infection or conditions like gastrointestinal disturbance. The initial results will show symptoms resembling viral encephalitis or ADEM. The patients diagnose with this condition exhibit deterioration of their condition. In some instances, those that exhibit glutaric aciduria II later in their adult life will show encephalopathy and still other symptoms. It is important to have an MRI for proper imaging and to avoid triggering the condition to move from a slower to faster phase and have an effect on the person suffering from this genetic disorder. This inherited genetic disorder leads to an accumulation of glutaric acid in the brain and body fluids. This also includes its presence in the urine. This is an altogether disease different from other unrelated enzyme deficiencies. Even if there are laboratory testing made like routine blood, urine and CSF ...
Glutaric acidemia, type IIc is a pan-ethnic autosomal recessive disease caused by pathogenic variants in the gene ETFDH. It is a metabolic disease which prevents the body from properly breaking down proteins and fats. The clinical presentation is highly variable. In the neonatal form of the disease, affected infants may have congenital anomalies, and the disease is usually fatal very early in life. In the later onset form, affected individuals may develop symptoms in childhood or adulthood, or may remain asymptomatic. Symptoms include episodes of metabolic crisis, which include lethargy, vomiting, muscle weakness, and enlarged liver. Life expectancy depends on the severity of disease. Different types of pathogenic ETFDH variants have been correlated with disease severity. Therefore, the phenotype may be somewhat predicted based on the inherited variants.. For information about carrier frequency and residual risk, please see the Expanded Carrier Screen brochure.. ...
BACKGROUND: The syndrome of progressive encephalopathy with limb rigidity has been historically termed progressive encephalomyelitis with rigidity and myoclonus (PERM) or stiff-person syndrome plus. METHODS: The case is presented of a previously healthy 28-year-old man with a rapidly fatal form of PERM developing over 2 months. RESULTS: Serum antibodies to both NMDA receptors (NMDAR) and glycine receptors (GlyR) were detected postmortem, and examination of the brain confirmed an autoimmune encephalomyelitis, with particular involvement of hippocampal pyramidal and cerebellar Purkinje cells and relative sparing of the neocortex. No evidence for an underlying systemic neoplasm was found. CONCLUSION: This case displayed not only the clinical features of PERM, previously associated with GlyR antibodies, but also some of the features associated with NMDAR antibodies. This unusual combination of antibodies may be responsible for the particularly progressive course and sudden death.
BACKGROUND: The syndrome of progressive encephalopathy with limb rigidity has been historically termed progressive encephalomyelitis with rigidity and myoclonus (PERM) or stiff-person syndrome plus. METHODS: The case is presented of a previously healthy 28-year-old man with a rapidly fatal form of PERM developing over 2 months. RESULTS: Serum antibodies to both NMDA receptors (NMDAR) and glycine receptors (GlyR) were detected postmortem, and examination of the brain confirmed an autoimmune encephalomyelitis, with particular involvement of hippocampal pyramidal and cerebellar Purkinje cells and relative sparing of the neocortex. No evidence for an underlying systemic neoplasm was found. CONCLUSION: This case displayed not only the clinical features of PERM, previously associated with GlyR antibodies, but also some of the features associated with NMDAR antibodies. This unusual combination of antibodies may be responsible for the particularly progressive course and sudden death.
2 members Glutaric Aciduria Type 1 is a rare inherited disorder in which the body is unable to break down completely the amino acids lysine, hydroxylysine and tryptophan causing damage to the brain and other... ...
Victor Feliz De La Cruz, MD and colleagues present a case of glutaric acidemia type II, an inherited disorder that interferes with the bodys ability to break down proteins and fats ...
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FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013 ...
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The National Institute of Standards and Technology (NIST) uses its best efforts to deliver a high quality copy of the Database and to verify that the data contained therein have been selected on the basis of sound scientific judgment. However, NIST makes no warranties to that effect, and NIST shall not be liable for any damage that may result from errors or omissions in the Database ...
Rnaseh1: | | | Ribonuclease H1 | | | | |||| ... World Heritage Encyclopedia, the aggregation of the largest online encyclopedias available, and the most definitive collection ever assembled.
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The twelfth edition of Brains Diseases of the Nervous System builds on the success of the previous editions of this classic neurology resource.
Bubbles in the blood can deliver drugs, make cells express certain genes and open up the blood-brain barrier, leading to new treatments for brain disease
A few years back Salman was detected with the illness Trigeminal Neuraglia, commonly known as suicide disease (dont worry he is not going to hang himself).
Adapted VibraFlex Massager is designed for individuals with generalized weakness and limited grasping strength as a result of neurological impairments. It is a two-speed massager with a soft, microfiber cover that bends to conform to all areas of the body, ...
... brain diseases, metabolic, inborn MeSH C18.452.100.100.050 - abetalipoproteinemia MeSH C18.452.100.100.162 - carbamoyl- ... brain diseases, metabolic, inborn MeSH C18.452.648.151.050 - abetalipoproteinemia MeSH C18.452.648.151.162 - carbamoyl- ... whipple disease MeSH C18.452.648.066 - amino acid metabolism, inborn errors MeSH C18.452.648.066.102 - albinism MeSH C18.452. ... gilbert disease MeSH C18.452.648.499 - jaundice, chronic idiopathic MeSH C18.452.648.556 - lipid metabolism, inborn errors MeSH ...
... brain diseases, metabolic, inborn MeSH C16.320.565.150.050 - abetalipoproteinemia MeSH C16.320.565.150.162 - carbamoyl- ... Gilbert disease MeSH C16.320.565.499 - jaundice, chronic idiopathic MeSH C16.320.565.556 - lipid metabolism, inborn errors MeSH ... Wolman disease MeSH C16.320.565.618 - metal metabolism, inborn errors MeSH C16.320.565.618.337 - hemochromatosis MeSH C16.320. ... inborn MeSH C16.320.565.088.400 - Hartnup disease MeSH C16.320.565.088.600 - oculocerebrorenal syndrome MeSH C16.320.565.100 - ...
It also acts on the brain's cholinergic system; Amyloid β containing pyroglutamic acid is increased in Alzheimer's disease; ... as well as in certain inborn errors of metabolism, causing an acidosis known as high anion gap metabolic acidosis. The sodium ... Pyroglutamic acid may function in glutamate storage, and acts to oppose the action of glutamate, including in the brain. ... Pepeu, Giancarlo; Spignoli, Giacomo (January 1989). "Nootropic drugs and brain cholinergic mechanisms". Progress in Neuro- ...
These diseases, of which there are many subtypes, are known as inborn errors of metabolism. Metabolic diseases can also occur ... The principal classes of metabolic disorders are: Acid-base imbalance Metabolic brain diseases Disorders of calcium metabolism ... Metabolic syndrome Lysosomal storage disease Deficiency disease "MeSH Descriptor Data: Metabolic diseases". National Library of ... Fernandes, John; Saudubray, Jean-Marie; Berghe, Georges van den (2013-03-14). Inborn Metabolic Diseases: Diagnosis and ...
... brain death MeSH C10.228.140.163 - brain diseases, metabolic MeSH C10.228.140.163.100 - brain diseases, metabolic, inborn MeSH ... lewy body disease MeSH C10.228.140.380.615 - pick disease of the brain MeSH C10.228.140.400 - diffuse cerebral sclerosis of ... brain MeSH C10.228.140.300.510 - intracranial arterial diseases MeSH C10.228.140.300.510.200 - cerebral arterial diseases MeSH ... brain edema MeSH C10.228.140.199 - brain injuries MeSH C10.228.140.199.250 - brain concussion MeSH C10.228.140.199.250.500 - ...
Toxic-metabolic encephalopathy: A catch-all for brain dysfunction caused by infection, organ failure, or intoxication. ... In modern usage, encephalopathy does not refer to a single disease, but rather to a syndrome of overall brain dysfunction; this ... Hyperammonemia: a condition caused by high levels of ammonia, which is due to inborn errors of metabolism (including urea cycle ... brain injury, or a reversible one. It can be due to direct injury to the brain, or illness remote from the brain. The ...
"Metabolic profiles of exercise in patients with McArdle disease or mitochondrial myopathy". PNAS. 114 (31): 8402-8407. doi: ... Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss ... Inborn errors of carbohydrate metabolism are inborn error of metabolism that affect the catabolism and anabolism of ... For further information on inborn errors of glucose metabolism and inborn errors of glycogen metabolism see below. Lactose is a ...
These range from social deprivation, genetic and metabolic diseases, immune disorders, infectious diseases, nutritional factors ... For example HIV Infections of the head and brain, like brain abscesses, meningitis or encephalitis have a high risk of causing ... Two examples are diabetes mellitus (a multifactorial disorder) and phenylketonuria (an inborn error of metabolism). Many such ... Brain trauma in the developing human is a common cause (over 400,000 injuries per year in the US alone, without clear ...
Genetics and Metabolic Disease > Metabolic Diseases > Glycogen-Storage Disease Type VI Author: Lynne Ierardi-Curto, MD, PhD. ... Mol Brain 2014;7:7 PMC 3917365 "Glycogen Storage Disease Type I - NORD (National Organization for Rare Disorders)". NORD ( ... "Incidence of Inborn Errors of Metabolism by Expanded Newborn Screening in a Mexican Hospital" (PDF). Journal of Inborn Errors ... A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by enzyme deficiencies ...
These diseases, of which there are many subtypes, are known as inborn errors of metabolism.[7] Metabolic diseases can also ... Calcium metabolism disorders, Acid-base imbalance, Metabolic brain diseases[1]. Diagnostic method. DNA test[2]. ... Fernandes, John; Saudubray, Jean-Marie; Berghe, Georges van den (2013-03-14). Inborn Metabolic Diseases: Diagnosis and ... A metabolic disorder can happen when abnormal chemical reactions in the body alter the normal metabolic process.[3] It can also ...
Jakobs, C.; Jaeken, J.; Gibson, K. M. (1993). "Inherited disorders of GABA metabolism". Journal of Inherited Metabolic Disease ... The absence of SSADH leads to a 30-fold increase of GHB and a 2-4 fold increase of GABA in the brains of patients with SSADH ... Inborn errors of metabolism Chambliss, K. L.; Hinson, D. D.; Trettel, F.; Malaspina, P.; Novelletto, A.; Jakobs, C.; Gibson, K ... Such diseases are caused by an error in a single DNA gene. Because the disease is autosomal, the defective gene is found on an ...
Metabolic Brain Disease. 29 (2): 231-243. doi:10.1007/s11011-013-9457-4. ISSN 0885-7490. PMID 24307180. S2CID 17239167. ... "Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults". Journal of Inherited Metabolic ... "diseases of the mind." Hippocrates writes: Men ought to know that from the brain, and from the brain only, arise our pleasures ... and Parkinson's disease focal neurological disease, such as stroke, brain tumors, multiple sclerosis, and some forms of ...
Hoffmann GF, Kölker S (2016). Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. pp. 333-348. doi:10.1007/978-3-662-49771 ... Brain. 133 (Pt 7): 2148-59. doi:10.1093/brain/awq143. PMC 2892945. PMID 20554659. Hagen J, te Brinke H, Wanders RJ, Knegt AC, ... Inborn Metabolic Diseases: Diagnosis and Treatment. Berlin: Springer. p. 296. ISBN 978-3-540-28783-4. "Norwegian granted for ... It is often due to a metabolic disease in which a protein involved in the breakdown of lysine is non functional due to a ...
... disease process, probably metabolic, which affected many of the organs and nerves in the body but affected the brain in a final ... Four types were distinguished: born criminals (inborn delinquents), pathological liars, querulous persons, and Triebmenschen ( ... In the absence of a direct physiological or genetic test or marker for each disease, it is only possible to distinguish them by ... What distinguishes each disease symptomatically (as opposed to the underlying pathology) is not any particular (pathognomonic) ...
Jakobs, C.; Jaeken, J.; Gibson, K. M. (1993). "Inherited disorders of GABA metabolism". Journal of Inherited Metabolic Disease ... Inborn errors of metabolism. References[edit]. *^ Chambliss, K. L.; Hinson, D. D.; Trettel, F.; Malaspina, P.; Novelletto, A.; ... While it is an inhibitory neurotransmitter, its ability to cross the blood brain barrier is limited. There is a lot of ... Such diseases are caused by an error in a single DNA gene. Because the disease is autosomal, the defective gene is found on an ...
An inborn error of metabolism leading to chronic metabolic acidosis". Arch Dis Child. 42: 492-504. doi:10.1136/adc.42.225.492. ... Though there are not distinct stages of the disease, Methylmalonic acidemia is a progressive condition; the symptoms of this ... Radmanesh, A; Zaman, T; Ghanaati, H; Molaei, S; Robertson, Rl; Zamani, Aa (July 2008). "Methylmalonic acidemia: brain imaging ... Methylmalonic acidemia (MMA), also called methylmalonic aciduria, is an autosomal recessive metabolic disorder. It is a ...
Journal of Inherited Metabolic Disease. 8 (2): 75-9. doi:10.1007/bf01801669. PMID 3939535. Gray RG, Pollitt RJ, Webley J (Aug ... a rare autosomal recessive inborn error of metabolism with a highly variable phenotype. The disease is passed through autosomal ... Brain imaging showed delayed myelination and thinning of the corpus callosum. Laboratory studies showed 3-hydroxyisobutyric ... Journal of Inherited Metabolic Disease. 35 (3): 437-42. doi:10.1007/s10545-011-9381-x. PMID 21863277. Human ALDH6A1 genome ...
... is a rapidly worsening brain disease. Symptoms may include vomiting, personality changes, confusion, seizures, ... Causes for similar symptoms include[citation needed] Various inborn metabolic disorders Viral encephalitis Drug overdose or ... Inborn errors of metabolism are also a risk factor. Changes on blood tests may include a high blood ammonia level, low blood ... Inborn errors of metabolism are also a risk factor. The association with aspirin has been shown through epidemiological studies ...
Plasma acylcarnitine levels and urine organic acids exclude some of the important metabolic diseases. When the episodes are ... Ketones can be used by the brain as an alternate fuel when glucose is scarce. A high level of ketones in the blood, ketosis, is ... and identifiable inborn errors of metabolism such as organic acidoses. The most useful diagnostic tests include measurement of ... "Inherited Metabolic Diseases: A Clinical Approach," Springer-Verlag Berlin Heidelberg, 2010.. ...
However, objective cognitive testing can be used to differentiate the neurocognitive deficits of brain disease from those ... which can produce fatigue due to inadequate nutrition Endocrine diseases or metabolic disorders: diabetes mellitus, ... which is chronic fatigue with no known cause that does not meet chronic fatigue syndrome criteria Inborn errors of metabolism ... Infectious diseases such as infectious mononucleosis or tuberculosis Irritable bowel syndrome Kidney diseases e.g. acute renal ...
Brain Res. Progress in Brain Research. 181: 177-92. doi:10.1016/S0079-6123(08)81010-2. ISBN 9780444536174. PMID 20478438. ... William Fishman (2 December 2012). Metabolic Conjugation and Metabolic Hydrolysis, Volume II. Elsevier. pp. 1-. ISBN 978-0-323- ... Honour JW (2009). "Diagnosis of diseases of steroid hormone production, metabolism and action". J Clin Res Pediatr Endocrinol. ... estrogen synthesis Inborn errors of steroid metabolism Steroidogenesis inhibitor Häggström, Mikael; Richfield, David (2014). " ...
Inborn errors of pyruvate metabolism. In: Stanbury JB, Wyngaarden JB, Frederckson DS et al., eds. Metabolic Basis of Inherited ... Brain disease[edit]. Wernicke's encephalopathy (WE), Korsakoff's syndrome (alcohol amnestic disorder), Wernicke-Korsakoff ... Wernicke's disease is one of the most prevalent neurological or neuropsychiatric diseases.[25] In autopsy series, features of ... R.E. Austic and M.L. Scott, Nutritional deficiency diseases, in Diseases of poultry, ed. by M.S. Hofstad, Iowa State University ...
... is a rare disease, but may be significantly underdiagnosed in people with previous traumatic brain injury. The ... In children, hypothyroidism leads to delayed growth and in extreme inborn forms to a syndrome called cretinism. Prolactin (PRL ... For instance, growth hormone deficiency is associated with obesity, raised cholesterol and the metabolic syndrome, and ... Apart from cardiovascular disease, this study also showed an increased risk of death from lung disease. Quality of life may be ...
Journal of Inherited Metabolic Disease. 35 (2): 253-261. doi:10.1007/s10545-011-9398-1. ISSN 0141-8955. PMID 22002442. S2CID ... It can act as a neurotransmitter in the brain, act as an inhibitor in the spinal cord and brain stem, while having excitatory ... Standard evaluation for inborn errors of metabolism and other causes of this presentation does not reveal any abnormality (no ... The disease is caused by defects in the glycine cleavage system, an enzyme responsible for glycine catabolism. There are ...
Inborn metabolic diseases diagnosis and treatment (5th ed.). Berlin: Springer. pp. 333-346. ISBN 978-3-642-15720-2. Saudubray ... Additionally, even though most mammals use the saccharopine pathway for most lysine degradation (Path 1), the brain has an ... "About Glutamate Toxicity". Huniting Disease Outreach for Education at Stanford (HOPES). Huntington's Disease Society of America ... Journal of Inherited Metabolic Disease. 1 (3): 89-94. doi:10.1007/bf01805679. PMID 116084. S2CID 35326745. Mills PB, Struys E, ...
Inborn errors of pyruvate metabolism. In: Stanbury JB, Wyngaarden JB, Frederckson DS et al., eds. Metabolic Basis of Inherited ... Wernicke's disease is one of the most prevalent neurological or neuropsychiatric diseases. In autopsy series, features of ... Korsakoff syndrome is, in general, considered to occur with deterioration of brain function in patients initially diagnosed ... R.E. Austic and M.L. Scott, Nutritional deficiency diseases, in Diseases of poultry, ed. by M.S. Hofstad, Iowa State University ...
In 1963, Cockburn moved to Boston, on a Huntington-Hartford Research Foundation Fellowship in Pediatric Metabolic Disease, ... Cockburn is most notable for conducting research into fetal/neonatal nutrition and brain biochemistry, inherited metabolic ... Oxford,London : Blackwell Scientific Publications., 1974 Inborn errors of metabolism in humans : monograph based upon ... Cultured Cell and Inherited Metabolic Disease : Monograph Based Upon., R Angus Harkness; Forrester Cockburn. Dordrecht : ...
... summary of recent sessions of the committee of experts to study inborn metabolic diseases". Public Health Committee, Eur. J. ... which is toxic to the brain. If left untreated, complications of PKU include severe intellectual disability, brain function ... It was recently suggested that PKU may resemble amyloid diseases, such as Alzheimer's disease and Parkinson's disease, due to ... Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University. Springer. p. 91. ISBN 9783319146218. ...
focal neurological disease, such as stroke, brain tumors,[37] multiple sclerosis,[36] and some forms of epilepsy ... Journal of Inherited Metabolic Disease. 30 (5): 631-41. doi:10.1007/s10545-007-0661-4. PMID 17694356.. ... inborn errors of metabolism, such as Succinic semialdehyde dehydrogenase deficiency, porphyria and metachromatic leukodystrophy ... neurodegenerative disorders, such as Alzheimer's disease,[33] dementia with Lewy bodies,[34] and Parkinson's disease[35][36] ...
Brain 1H-MRS examination is a reliable and minimally invasive technique to assess brain creatine disorders. Because of its ... Metabolic control of creatine biosynthesis". Acta Endocrinol. 53 (4): 655-62. doi:10.1530/acta.0.0530655. PMID 5953691. Zhu Y, ... AGAT deficiency is, along with GAMT and creatine transporter defect, one of three inborn errors of the creatine biosynthesis/ ... support the hypothesis that earlier diagnosis and treatment can substantially improve the final prognosis of these diseases. ...
Metabolic/biochemical genetics[edit]. Metabolic (or biochemical) genetics involves the diagnosis and management of inborn ... Examples of metabolic disorders include galactosemia, glycogen storage disease, lysosomal storage disorders, metabolic acidosis ... the blood brain barrier prevents enzyme from reaching the brain, for example), and can sometimes be associated with allergic ... Examples include Gaucher disease, Fabry disease, Mucopolysaccharidoses and Glycogen storage disease type II. Such treatments ...
The brain can regulate blood flow over a range of blood pressure values by vasoconstriction and vasodilation of the arteries.[ ... Interrelations between Essential Metal Ions and Human Diseases. Metal Ions in Life Sciences. 13. Springer. pp. 81-137. doi: ... The metabolic rate is increased, initially by non-shivering thermogenesis,[32] followed by shivering thermogenesis if the ... Almost any homeostatic component can malfunction either as a result of an inherited defect, an inborn error of metabolism, or ...
Primarily metabolic[edit]. Main article: Inborn error of metabolism. A congenital metabolic disease is also referred to as an ... brain damage,[19] intellectual disability,[20] heart disease, kidney abnormality, skeletal anomalies, ocular abnormalities.[21] ... "Centers for Disease Control and Prevention. Retrieved 7 December 2014.. *^ "Hydrocephalus". Mayo Clinic. Retrieved 7 December ... Centers for Disease Control and Prevention. *^ a b "Facts about Cleft Lip and Cleft Palate , Birth Defects , NCBDDD , CDC". www ...
Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (E73-E74, 271) Including glycogen storage diseases ... It is important that newborns be screened for metabolic disorders without delay. Galactosemia can even be detected through NBS ... brain damage, and ovarian failure. Without treatment, mortality in infants with galactosemia is about 75%. ... There are diseases associated with deficiencies of each of these three enzymes: Type. Diseases Database. OMIM. Gene Locus. ...
In health and disease[edit]. Under homeostasis, the reactivity of heme is controlled by its insertion into the "heme pockets" ... infusion of heme arginate or hematin and glucose can abort attacks of acute intermittent porphyria in patients with an inborn ... "Carbon Monoxide and the brain: time to rethink the dogma". Curr. Pharm. Des. 19 (15): 2771-5. doi:10.2174/1381612811319150013 ... Heme metabolic intermediates. Porphyrin biosynthesis. .mw-parser-output .nobold{font-weight:normal}. early mitochondrial:. *D- ...
Journal of Inherited Metabolic Disease. 10 Suppl 1: 159-200. doi:10.1007/bf01812855. PMID 3119938. Zhang J, Frerman FE, Kim JJ ... Brain. 130 (Pt 8): 2045-54. doi:10.1093/brain/awm135. PMID 17584774. Rhead W, Roettger V, Marshall T, Amendt B (Feb 1993). " ... Vianey-Liaud C, Divry P, Gregersen N, Mathieu M (1987). "The inborn errors of mitochondrial fatty acid oxidation". ... Deficiency in ETF dehydrogenase causes the human genetic disease multiple acyl-CoA dehydrogenase deficiency. ETQ-QO links the ...
"Malnutrition and wasting in renal disease". Current Opinion in Clinical Nutrition and Metabolic Care. 12 (4): 378-83. doi: ... Decreased brain size: Protein deficiency has been shown to affect the size and composition of brains in rhesus monkeys. Monkeys ... end stage renal disease, oncologic disease, genetic disease, neurological disease, multiple diagnoses, or prolonged ... especially the brain, the susceptibility to diseases in adulthood, and even gene expression. When pregnant females of various ...
Stone I (January 1967). "The genetic disease, hypoascorbemia. A fresh approach to an ancient disease and some of its medical ... Princeton Brain Bio Center. Brochure, distributed to patients. Skillman, New Jersey, 1983, The Center. ... and megavitamin therapies for a group of rare inborn errors of metabolism.[21] A review in the Annals of Internal Medicine ... mental and metabolic disorders,[44] migraine, mononucleosis, mushroom poisoning, neuropathy & polyneuritis (including multiple ...
... "diseases of the mind." Hippocrates writes:. Men ought to know that from the brain, and from the brain only, arise our pleasures ... other acquired metabolic disorders, including electrolyte disturbances such as hypocalcemia,[45] hypernatremia,[46] ... inborn errors of metabolism, such as Succinic semialdehyde dehydrogenase deficiency, porphyria and metachromatic leukodystrophy ... focal neurological disease, such as stroke, brain tumors,[32] multiple sclerosis,[33] and some forms of epilepsy ...
Template:Metabolic navs. (. 编辑 讨论 链接 历史. ). - Inborn errors of metabolism ... 先天(英语:Template:Diseases of myoneural junction and muscle) *腹部(英语:Template: Congenital diaphragm and abdominal wall defects) ... 病灶(英语:Template:Lesions of spinal cord and brain). *測試 *CSF(英语:Template:CSF tests) ... Template:Congenital disease navs. (. 编辑 讨论 链接
Other metabolic pathology}}. Medicine. Other metabolic pathology / Inborn error of metabolism (E70-E90, 270-279). Metabolic ... Infectious disease templates. Footer. Pathology. Viral disease. {{Zoonotic viral diseases}}. Medicine. Zoonotic viral diseases ... Brain-computer interface}}. Neuroscience. Brain-computer interface. Neurology and psychiatry medicine templates. Pseudo. ... Infectious disease templates. Footer. Pathology. Viral disease. {{Viral systemic diseases}}. Medicine. Infectious diseases - ...
1992). Metabolic brain dysfunction in systemic disorders. Boston: Little, Brown. ISBN 978-0-316-05067-8. . OCLC 24912204.. ... liver disease, hypothyroidism, starvation, inborn error of metabolism, severe infections, reactive hypoglycemia, and a number ... The importance of an adequate supply of glucose to the brain is apparent from the number of nervous, hormonal, and metabolic ... Brief or mild hypoglycemia produces no lasting effects on the brain, though it can temporarily alter brain responses to ...
... has been linked to Alzheimer's disease as well as other metabolic and vascular diseases.[3] ... were associated with smaller brain volumes and increased risk of dementia.[36][37][38] Alzheimer's disease and abdominal ... Alzheimer's disease[edit]. Based on studies, it is evident that obesity has a strong association with vascular and metabolic ... This parameter has been used in the study of metabolic syndrome[67][68] and cardiovascular disease.[69] ...
... genetic and metabolic diseases, immune disorders, infectious diseases, nutritional factors, physical trauma, and toxic and ... Infections of the head and brain, like brain abscesses, meningitis or encephalitis have a high risk of causing ... Two examples are diabetes mellitus (a multifactorial disorder) and phenylketonuria (an inborn error of metabolism). Many such ... Metabolic disordersEdit. Metabolic disorders in either the mother or the child can cause neurodevelopmental disorders. ...
This is a higher rate of false positives than the screening tests for many other congenital metabolic diseases. ... has made it clear that prenatal and early postnatal androgens play a role in the differentiation of most mammalian brains. ... Inborn errors of steroid metabolism. *Congenital adrenal hyperplasia. *Adrenal insufficiency. *Disorders of sexual development ... Since CAH is an autosomal recessive disease, most children with CAH are born to parents unaware of the risk and with no family ...
"Females experience a more severe disease course in Batten disease". Journal of Inherited Metabolic Disease. 35 (3): 549-55. doi ... Lysosomal storage diseases: Inborn errors of lipid metabolism (Lipid storage disorders) (E75, 272.7-272.8) ... These are believed to be the first-ever transplants of fetal stem cells into the human brain.[15] By early December, the child ... Lysosomal storage diseases. References[edit]. *^ a b c d e f "Batten Disease Fact Sheet". National Institute of Neurological ...
"Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults". Journal of inherited metabolic ... I. Does the pre-DSM-III concept define a third psychosis?". Journal of Nervous and Mental Disease. 176 (2): 72-81. doi:10.1097/ ... "Functional Brain Imaging in Schizophrenia: Selected Results and Methods". In Swerdlow, Neal. Behavioral Neurobiology of ... Moore, M.T.; Nathan D.; Elliot A.R.; Laubach C. (1935). "Encephalographic studies in mental disease". American Journal of ...
Metabolic disease. *Child health and nutrition in Africa. *Food Security in Mexico ... Lower energy and impaired function of the brain also represent the downward spiral of malnutrition as victims are less able to ... As underweight children are more vulnerable to almost all infectious diseases, the indirect disease burden of malnutrition is ... Overeating leads to many diseases, such as heart disease and diabetes, that may result in death. ...
Diffuse inflammatory or degenerative diseases of the small intestine, such as Crohn disease, celiac disease, chronic enteritis ... Cerebral folate deficiency is when levels of 5-methyltetrahydrofolate are low in the brain as measured in the cerebral spinal ... Desai A, Sequeira JM, Quadros EV (2016). "The metabolic basis for developmental disorders due to defective folate transport". ... Tamparo C (2011). Diseases of the Human Body (Fifth ed.). Philadelphia, PA. pp. 337. ISBN 978-0-8036-2505-1. .. ...
In various diseases, such as type II diabetes, metabolic syndrome, and cancer, normal metabolism is disrupted. Metabolic ... vertebrates need to produce ketone bodies from fatty acids to replace glucose in tissues such as the brain that cannot ... Thermodynamic state measurement Isothermal microcalorimetry Inborn errors of metabolism Iron-sulfur world hypothesis - ... As well as the evolution of new metabolic pathways, evolution can also cause the loss of metabolic functions. For example, in ...
Build: Sat Feb 17 08:59:16 EST 2018 (commit: 16064c5). National Center for Advancing Translational Sciences (NCATS), 6701 Democracy Boulevard, Bethesda MD 20892-4874 • 301-435-0888. ...
Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System Diseases. Nervous System ... Condition or disease Intervention/treatment Phase Urea Cycle Disorders, Inborn Inborn Errors of Metabolism Propionic Acidemia ... Amino Acid Metabolism, Inborn Errors. Urea Cycle Disorders, Inborn. Metabolism, Inborn Errors. Acidosis. Propionic Acidemia. ... Genetic and Rare Diseases Information Center resources: Urea Cycle Disorders Propionic Acidemia Methylmalonic Acidemia Inborn ...
Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Cholestasis. Peroxisomal Disorders. Zellweger ... Metabolism, Inborn Errors. Metabolic Diseases. Adrenal Insufficiency. Adrenal Gland Diseases. Endocrine System Diseases. Liver ... Refsum Disease. Bile Duct Diseases. Biliary Tract Diseases. Digestive System Diseases. Central Nervous System Diseases. Nervous ... Genetic Diseases, X-Linked. Genetic Diseases, Inborn. Heredodegenerative Disorders, Nervous System. ...
Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System Diseases. Nervous System ... Genetic Diseases, Inborn. Glycogen Storage Disease. Lysosomal Storage Diseases. Metabolic Diseases. Metabolism, Inborn Errors. ... Patients with adult onset POMPE disease (onset of symptoms after two years old) and molecular diagnosis confirming the disease ... Genetic and Rare Diseases Information Center resources: Glycogen Storage Disease Type 2 ...
Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System Diseases. Nervous System ... Genetic Diseases, Inborn. Glycogen Storage Disease. Lysosomal Storage Diseases. Metabolic Diseases. Metabolism, Inborn Errors. ... Genetic and Rare Diseases Information Center resources: Glycogen Storage Disease Type 2 ... Glycogen Storage Disease Type II. Lysosomal Storage Diseases, Nervous System. ...
Genetic brain disorders affect the development and function of the brain. Some are inherited, some are caused by exposure, and ... Brain Diseases, Metabolic, Inborn (National Institutes of Health) * ClinicalTrials.gov: Niemann-Pick Diseases (National ... Wilson disease. Many people with genetic brain disorders fail to produce enough of certain proteins that influence brain ... Genetic brain disorders affect the development and function of the brain.. Some genetic brain disorders are due to random gene ...
Brain Diseases, Metabolic, Inborn. *Cells, Cultured. *Electron Spin Resonance Spectroscopy. *Energy Metabolism ... cofactor in the fetal brain increases hypoxia-ischemia injury in specific brain regions and worsens motor disabilities in ... Our project dealing with the fetal brain is supported by our discovery that a developmentally low tetrahydrobiopterin (BH4) ... We focus on three different systems: fetal brain, heart, and endothelial cells. My research is supported by the National ...
Familial Metabolic Brain Diseases; Inborn Errors of Metabolism, Brain; Metabolic Diseases, Inborn, Brain. On-line free medical ... Metabolic, Inborn; Central Nervous System Inborn Metabolic Diseases; ... Ranked list of possible diseases from either several symptoms or a full patient history. A similarity measure between symptoms ... Brain Diseases, Metabolic, Inborn (Central Nervous System Inborn Metabolic Diseases; Familial Metabolic Brain Diseases; Inborn ...
Brain Diseases, Metabolic, Inborn / pathology*. Corpus Callosum / abnormalities*, pathology. Female. Humans. Magnetic Resonance ... to describe the spectrum of abnormalities in brain development in patients with confirmed inborn errors of metabolism and ... Nineteen patients (10 males, 9 females) with confirmed metabolic diagnoses were identified by systematic search of the genetics ... 2627944 - Detection of restenosis after coronary angioplasty for single-vessel disease: how relia.... 25276044 - Physiotherapy ...
... current scope of these diseases is unknown. Due to available precision medicine approaches in many inborn errors of... ... Many inborn errors of metabolism may present with epilepsy or seizures, however, ... Metabolic Brain Disease. December 2018. , Volume 33, Issue 6, pp 1781-1786 , Cite as ... Metabolic epilepsy Next-generation sequencing Inherited metabolic disease Diagnostics Electronic supplementary material. The ...
Brain / metabolism, pathology, physiopathology. Brain Diseases, Metabolic, Inborn / genetics*, metabolism, physiopathology*. ... Genetic Predisposition to Disease / genetics*. Genetic Testing. Genotype. Humans. Hyperammonemia / genetics, metabolism, ... Amino Acid Metabolism, Inborn Errors / genetics*, metabolism, physiopathology*. Amino Acid Transport Systems, Basic / genetics* ... We suggest including HHH syndrome in the differential diagnosis of patients found to have stroke-like lesions on brain MRI.. ...
Categories: Brain Diseases, Metabolic, Inborn Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ... Centers for Disease Control and Prevention. CDC twenty four seven. Saving Lives, Protecting People ... The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. ...
L-2-hydroxyglutaric aciduria is a rare, autosomal-recessive, inborn error of metabolism characterized by a variable degree of ... Brain Diseases, Metabolic, Inborn / complications Actions. * Search in PubMed * Search in MeSH ... Mitochondrial TCA cycle metabolites control physiology and disease. Martínez-Reyes I, Chandel NS. Martínez-Reyes I, et al. Nat ... This observation potentially widens the tumor spectrum in this metabolic disorder and may lead to further insight into the ...
Background Parents of children with metabolic diseases report more parenting stress, anxiety, depression and dysfunctional ... Brain Diseases, Metabolic. Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include ... Metabolic Diseases. Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited ... children with metabolic diseases benefit from the Triple P - Positive Parenting Program? A pilot study.". Background Parents of ...
Brain Diseases, Metabolic. Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include ... BRAIN; ENCEPHALITIS; certain NEUROTOXICITY SYNDROMES; metabolic disorders (see BRAIN DISEASES, METABOLIC); and other conditions ... TASTE BUD diseases; FACIAL NERVE DISEASES; GLOSSOPHARYNGEAL NERVE DISEASES; and BRAIN STEM diseases). ... Brain Banks are biorepositories of central nervous system (CNS) tissue including fixed and frozen whole brains, brain biopsies ...
Brain Diseases, Metabolic, Inborn; Amino Acid Metabolism, Inborn Errors; Urea Cycle Disorders. ... Prevalence of specific morbid indicators of disease severity; Relationship between various biomarkers and disease severity and ... Brain Imaging of Intranasal Oxytocin Treatment in Autism Condition: Autism Spectrum Disorders. ... Participants with an illness or disease also participate to help others, but also to possibly receive the newest treatment and ...
Ornithine Carbamoyltransferase Deficiency Disease [C16.320.565.100.940.750]. *Brain Diseases, Metabolic, Inborn [C16.320. ... Ornithine Carbamoyltransferase Deficiency Disease [C18.452.648.100.940.500]. *Brain Diseases, Metabolic, Inborn [C18.452. ... Brain Diseases [C10.228.140]. *Brain Diseases, Metabolic [C10.228.140.163]. *Brain Diseases, Metabolic, Inborn [C10.228.140.163 ... Brain Diseases, Metabolic [C18.452.132]. *Brain Diseases, Metabolic, Inborn [C18.452.132.100]. *Urea Cycle Disorders, Inborn [ ...
Brain Diseases [C10.228.140]. *Brain Diseases, Metabolic [C10.228.140.163]. *Brain Diseases, Metabolic, Inborn [C10.228.140.163 ... Pyruvate Carboxylase Deficiency Disease [C10.228.140.163.100.725]. *Congenital, Hereditary, and Neonatal Diseases and ... Brain Diseases, Metabolic [C18.452.132]. *Brain Diseases, Metabolic, Inborn [C18.452.132.100]. *Pyruvate Carboxylase Deficiency ... Genetic Diseases, Inborn [C16.320]. *Metabolism, Inborn Errors [C16.320.565]. *Brain Diseases, Metabolic, Inborn [C16.320. ...
A brain disease that is characterized by brain damage result..[+]. A brain disease that is characterized by brain damage ... purine-pyrimidine metabolic disorder inborn errors of purine-pyrimidine metabolism An inherited metabolic disorder involving ... prion induced disorder; Prion protein disease; Prion disease.. [+]. Prion protein disease; prion induced disorder; Prion ... A kidney disease that is characterized by the presence of ex..[+]. A kidney disease that is characterized by the presence of ...
Helping you find trustworthy answers on Inborn Error of Small Molecule Metabolism , Latest evidence made easy ... Find all the evidence you need on Inborn Error of Small Molecule Metabolism via the Trip Database. ... Lysosomal Storage Diseases, Nervous System Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central ... Inborn Errors Vitamin B 12 Deficiency Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central ...
Brain Diseases [C10.228.140]. *Brain Diseases, Metabolic [C10.228.140.163]. *Brain Diseases, Metabolic, Inborn [C10.228.140.163 ... Saccharopine Dehydrogenase Deficiency Disease*Saccharopine Dehydrogenase Deficiency Disease. *Deficiency Disease, Saccharopine ... Brain Diseases, Metabolic [C18.452.132]. *Brain Diseases, Metabolic, Inborn [C18.452.132.100]. *Hyperlysinemias [C18.452. ... Alpha-Aminoadipic Semialdehyde Deficiency Disease*Alpha-Aminoadipic Semialdehyde Deficiency Disease. *Alpha Aminoadipic ...
... and post-natal brain development may translate into functional deficits, which could be at the basis of severe pathologies ... provided a critical analysis of what is currently known on the pathophysiological role of purines and pyrimidines during brain ... of synaptic transmission and contributes to the establishment of functional neuronal networks in the developing brain. ... of synaptic transmission and contribute to the establishment of functional neuronal networks in the developing brain. ...
Inborn Metabolic Brain Diseases Inborn Errors Amino Acid Metabolism Multiple Acyl Coenzyme A Dehydrogenase Deficiency ... Hamilton, I. & McGarrity, T., Aug 1 1991, In : Digestive Diseases and Sciences. 36, 8, p. 1179-1180 2 p.. Research output: ... Hu, S., Shearer, G. C., Steffes, M. W., Harris, W. S. & Bostom, A. G., Jan 1 2011, In : American Journal of Kidney Diseases. 57 ... No evidence for a link between consumption of chocolate and coronary heart disease [1] (multiple letters). Kris-Etherton, P. M. ...
Inborn Metabolic Brain Diseases CADASIL Central Nervous System Vasculitis Notch Receptors Mitochondrial Diseases ...
Inborn Metabolic Brain Diseases X Ray Computed Tomography Prenatal Diagnosis Magnetic Resonance Imaging ... Visual loss in Alzheimers disease: Out of sight, out of mind. Duffy, C., Jan 1 1999, In : Neurology. 52, 1, p. 10-11 2 p.. ... Bettermann, K., Jan 1 2011, In : Journal of Stroke and Cerebrovascular Diseases. 20, 3, p. 173-176 4 p.. Research output: ... Letter from the guest Editor: Congenital/developmental brain abnormalities, Part I. Kanekar, S., Jun 1 2011, In : Seminars in ...
A Swedish study indicated that omega-3 fatty acids have the potential to delay onset of metabolic disorders and associated ... Top Beauty Foods to Look Younger and Glowing Health Benefits of Omega 3 Fatty Acids Inborn Errors of Metabolism Hartnup Disease ... omega-3 fatty acids, are essential for optimal brain function and mental health. Various studies have shown n-3 PUFA to have ... "Syndrome X" or "Metabolic syndrome" is a group of conditions that puts a person at risk for diabetes and heart disease. With ...
Brain Diseases, Metabolic, Inborn - Genetics - Immunology. en_US. dc.subject.mesh. Humans. en_US. ...
These diseases, of which there are many subtypes, are known as inborn errors of metabolism. Metabolic diseases can also occur ... The principal classes of metabolic disorders are: Acid-base imbalance Metabolic brain diseases Disorders of calcium metabolism ... Metabolic syndrome Lysosomal storage disease Deficiency disease "MeSH Descriptor Data: Metabolic diseases". National Library of ... Fernandes, John; Saudubray, Jean-Marie; Berghe, Georges van den (2013-03-14). Inborn Metabolic Diseases: Diagnosis and ...
... brain diseases, metabolic, inborn MeSH C18.452.100.100.050 - abetalipoproteinemia MeSH C18.452.100.100.162 - carbamoyl- ... brain diseases, metabolic, inborn MeSH C18.452.648.151.050 - abetalipoproteinemia MeSH C18.452.648.151.162 - carbamoyl- ... whipple disease MeSH C18.452.648.066 - amino acid metabolism, inborn errors MeSH C18.452.648.066.102 - albinism MeSH C18.452. ... gilbert disease MeSH C18.452.648.499 - jaundice, chronic idiopathic MeSH C18.452.648.556 - lipid metabolism, inborn errors MeSH ...
... and congenital heart disease in one child. Investigations to exclude inborn errors were undertaken in three of the six patients ... because even mild hyperammonaemia can be a pointer to metabolic disease. Moderate or severe hyperammonaemia is highly toxic to ... the brain. A repeat specimen should, therefore, be sent immediately if the reported concentration is above 200 μmol/l or if the ... review of the notes in the others did not reveal any pointers to metabolic disease. ...
  • Hyperammonemia probably refractory to N-carbamylglutamate: other urea cycle disorders (UCD), lysinuric protein intolerance, mitochondrial disorders, congenital lactic acidemia, fatty acid oxidation defects or primary liver disease. (clinicaltrials.gov)
  • The objectives of the present study were to determine the prevalence of developmental defects of the corpus callosum in patients attending a genetics-metabolic disorders clinic, to describe the spectrum of abnormalities in brain development in patients with confirmed inborn errors of metabolism and abnormalities of the corpus callosum as ascertained by neuroimaging and/or postmortem studies. (biomedsearch.com)
  • Genetic brain disorders affect the development and function of the brain. (medlineplus.gov)
  • Some genetic brain disorders are due to random gene mutations or mutations caused by environmental exposure, such as cigarette smoke. (medlineplus.gov)
  • Many people with genetic brain disorders fail to produce enough of certain proteins that influence brain development and function. (medlineplus.gov)
  • These brain disorders can cause serious problems that affect the nervous system. (medlineplus.gov)
  • Due to available precision medicine approaches in many inborn errors of metabolism and sophisticated traditional diagnostics, this group of disorders is of special relevance to clinicians. (springer.com)
  • The most numerous group comprised disorders of energy metabolism (115, 31% of all inborn errors of metabolism). (springer.com)
  • The goal of this project is to study the effect of noninvasive brain stimulation on decision-making and on brain activity in impulse control disorders. (bioportfolio.com)
  • This study looks at the role of a specific brain chemical system in the mood and attention symptoms seen in major depression and bipolar disorders using functional brain imaging. (bioportfolio.com)
  • Building Models of Brain Disorders with Three-Dimensional Organoids. (bioportfolio.com)
  • Disorders of the nervous system are challenging to study and treat due to the relative inaccessibility of functional human brain tissue for research. (bioportfolio.com)
  • Brain-derived neurotrophic factor in substance use disorders: A systematic review and meta-analysis. (bioportfolio.com)
  • Brain-derived neurotrophic factor (BDNF) is associated with several neurodegenerative and psychiatric disorders. (bioportfolio.com)
  • Traumatic brain injury and stroke often lead to cognitive, neurological and psychological disorders, which can result in many difficulties. (bioportfolio.com)
  • Lower vitamin D levels are found in people with schizophrenia and depressive disorders, and also associated with neuroimaging abnormalities such as reduced brain volume in both animals and humans. (bioportfolio.com)
  • A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. (harvard.edu)
  • In this review, we have provided a critical analysis of what is currently known on the pathophysiological role of purines and pyrimidines during brain development with the aim of unveiling new future strategies for pharmacological intervention in different neurodevelopmental disorders. (frontiersin.org)
  • Metabolic disorders can happen when abnormal chemical reactions in the body alter the normal metabolic process. (wikipedia.org)
  • Some of the symptoms that can occur with metabolic disorders are lethargy, weight loss, jaundice and seizures. (wikipedia.org)
  • Inherited metabolic disorders are one cause of metabolic disorders, and occur when a defective gene causes an enzyme deficiency. (wikipedia.org)
  • The principal classes of metabolic disorders are: Acid-base imbalance Metabolic brain diseases Disorders of calcium metabolism DNA repair-deficiency disorders Glucose metabolism disorders Hyperlactatemia Iron metabolism disorders Lipid metabolism disorders Malabsorption syndromes Metabolic syndrome X Inborn error of metabolism Mitochondrial diseases Phosphorus metabolism disorders Porphyrias Proteostasis deficiencies Metabolic skin diseases Wasting syndrome Water-electrolyte imbalance Metabolic disorders can be present at birth, and many can be identified by routine screening. (wikipedia.org)
  • Specific blood and DNA tests can be done to diagnose genetic metabolic disorders. (wikipedia.org)
  • Metabolic disorder screening can be done in newborns via the following methods: Blood test Skin test Hearing test Metabolic disorders can be treatable by nutrition management, especially if detected early. (wikipedia.org)
  • Nutrition Management of Patients with Inherited Metabolic Disorders. (wikipedia.org)
  • The researchers thus concluded that preventive dietary approach such as omega-3 supplementation may combat both metabolic disorders as well as associated cognitive decline. (medindia.net)
  • The most common causes are diabetes mellitus and idiopathic ketotic hypoglycaemia (IKH) but a number of endocrine disorders and inborn errors of metabolism (IEMs) need to be excluded. (bmj.com)
  • Gaucher disease is a member of the group of inherited metabolic disorders known as sphigolipidoses. (alzheimer-europe.org)
  • Metabolite amyloids: a new paradigm for inborn error of metabolism disorders. (nih.gov)
  • The Hannah Poling case has raised many questions about vaccines and metabolic disorders (of which mitochondrial disorders is a subset). (leftbrainrightbrain.co.uk)
  • For experts, they chose members of the Society for Inherited Metabolic Disorders (for which there were 379 email addresses: that gives us an idea of how specialized this field is). (leftbrainrightbrain.co.uk)
  • Raptor's preclinical programs are based upon bioengineered novel drug candidates and drug-targeting platforms derived from the human receptor-associated protein (RAP) and related proteins that are designed to target cancer, neurodegenerative disorders and infectious diseases. (science20.com)
  • Diseases that arise from abnormalities in the genetic material are termed genetic disorders. (britannica.com)
  • Inborn errors of metabolism are autosomal recessive disorders caused by mutations in genes coding for metabolic enzymes. (britannica.com)
  • Phenylketonuria (PKU), which leads to severe intellectual disability, is one of the few such disorders that is treatable: infants can be tested for it, and brain damage can be avoided with a special diet. (britannica.com)
  • Common genetic disorders of brain development include septo-optic dysplasia, schizencephaly, holoprosencephaly, lissencephaly and hindbrain malformations. (bvsalud.org)
  • The condition is one of the congenital disorders of glycosylation or CDG, a group of syndromes in which inborn metabolic errors result in serious, sometimes fatal, malfunctions of different organ systems, especially the nervous system, muscles and intestines. (ucsd.edu)
  • Selected diseases are organized by the defective molecule or mechanism and categorized as small molecule disorders (involving amino and organic acids, fatty acids, neurotransmitters, urea cycle, vitamers and cofactors, and mitochondria) and large molecule disorders (including lysosomal storage disorders, peroxisomal disorders, glycosylation disorders, and leukodystrophies). (hindawi.com)
  • Inherited metabolic epilepsies are disorders that, while individually rare, are in aggregate a substantial clinical portion of child neurology, as well as a complex field of knowledge for physicians, investigators, and students to tackle. (hindawi.com)
  • A subset of these disorders can lead to the development of epileptic encephalopathy, that is, a brain disturbance due to highly active clinical or electrographic ictal activity. (hindawi.com)
  • Careful consideration of metabolic disorders in patients presenting with epileptic encephalopathy is therefore warranted, and to this end, we hope a review may be helpful. (hindawi.com)
  • Examples of specific disorders are discussed, with full listings of the multiple enzyme defects and diseases in particular categories presented in tables. (hindawi.com)
  • The range of inherited metabolic disorders has been organized by the category of molecules or the biochemical process involved: for example, small molecule disorders include dysfunction involving amino, organic, or fatty acids, neurotransmitters, the urea cycle, vitamers and cofactors, and disorders of the mitochondria. (hindawi.com)
  • These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function. (sickkids.ca)
  • Lack of Moco is found to be associated with many inborn genetic disorders, such as mental retardation, brain immaturity, nervous shocks, and neurodegenerative diseases. (ac.ir)
  • Feature congenital metabolic disorders due to the inability to convert phenylalanine to tyrosine. (allbest.ru)
  • Recent studies show convincing evidence associating altered DHO activity with the pathogenesis and progression of several neurological disorders such as Alzheimer's and Parkinson's disease. (intechopen.com)
  • however to summarize we will discuss the different types of DHOs in central nervous system (CNS) and BBB physiology, their key enzymatic action, their function in crucial metabolic pathways, and thus how their altered activity or expression can be linked to the underlying pathogenesis of various brain disorders. (intechopen.com)
  • Any alteration in normal BBB functions can play a central role in the pathogenesis and progression of broad variety of CNS disorders such as multiple sclerosis, Alzheimer's disease, neoplasia, hypertension, dementia, epilepsy, infection and trauma [ 1 - 4 ]. (intechopen.com)
  • Despite the advances and breakthroughs in nanotechnology-based approaches, their efficacy towards the treatment of neurological disorders, like brain tumour, stroke, Alzheimer's disease, have been largely constrained. (biomedcentral.com)
  • Our laboratory seeks to characterize these metabolic disorders, understand how they compromise tissue function, develop methods to monitor metabolism in vivo and design therapies to restore normal metabolism and improve health. (utsw.edu)
  • Internationally, Professor Haffner is involved in the cooperation and coordination of clinical research on topics such as growth and development, cardiovascular health and bone disease in children with renal disorders. (mh-hannover.de)
  • Our own metabolic laboratory is able to analyse complex disorders of amino and organic acids and respiratory chain defects. (mh-hannover.de)
  • Research groups on congenital and acquired kidney and liver diseases, neurological and metabolic disorders focus on the cause of these diseases, while also continuing to develop innovative diagnostic and treatment strategies. (mh-hannover.de)
  • We discuss here potential mechanisms by which metabolic defects affect diverse biochemical pathways, altering key neurobiological processes (e.g. defective cell membrane formation, cellular bioenergetics and cell-to-cell signaling), that eventually lead to structural abnormalities in the developing nervous system. (biomedsearch.com)
  • J F Neil, R H Glew, S P Peters: Familial psychosis and diverse neurologic abnormalities in adult-onset Gaucher's disease. (alzheimer-europe.org)
  • However, some develop adult-onset type II citrullinemia, which is associated with metabolic abnormalities. (deepdyve.com)
  • A genetic brain disorder is caused by a variation or a mutation in a gene. (medlineplus.gov)
  • This observation potentially widens the tumor spectrum in this metabolic disorder and may lead to further insight into the relationship between L-2-hydroxyglutaric acid and cellular transformation. (nih.gov)
  • An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. (harvard.edu)
  • A metabolic disorder is a disorder that negatively alters the body's processing and distribution of macronutrients such as proteins, fats, and carbohydrates. (wikipedia.org)
  • The symptoms expressed would vary with the type of metabolic disorder. (wikipedia.org)
  • If a metabolic disorder is not identified early, then it may be diagnosed later in life, when symptoms appear. (wikipedia.org)
  • In terms of pathophysiological/mechanism interactions, an abnormal gut microbioma can play a role in metabolic disorder related obesity. (wikipedia.org)
  • Gaucher disease is a typical lysosomal storage disorder resulting from an inborn deficiency of glucocerebrosidase. (alzheimer-europe.org)
  • It is now almost a decade since the identification of the Huntington's Disease gene and its mutation, during which time, major advances in our understanding of this disorder have been achieved. (oup.com)
  • Loss of GLDC produces a disorder called nonketotic hyperglycinemia, which causes glycine to build up in the brain and can lead to severe mental retardation. (healthcanal.com)
  • GLDC loss accumulates glycine, causing nonketotic hyperglycinaemia, a disorder that severely affects the developing brain. (healthcanal.com)
  • Again, this is not to say that autism or autistic features were seen, or that mitochondrial disease was the metabolic disorder linked in the deterioration. (leftbrainrightbrain.co.uk)
  • Sickle-cell disease , a disorder caused by a defect in hemoglobin that affects oxygen transport in the blood, is most common among people of West African descent. (britannica.com)
  • Stuttering may occur as a developmental condition in childhood or as an acquired disorder which may be associated with BRAIN INFARCTIONS and other BRAIN DISEASES. (edu.au)
  • Anderson-Fabry disease is the second most common glycosphingolipid storage disorder (after Gaucher disease) with birth frequency of 1 in 100 000. (bmj.com)
  • In this home work I try to explain such amino acid disorder diseases as phenylketonuria, maple syrup disease, homocystinuria, cystinuria, glycine encephalopathy. (allbest.ru)
  • To determine whether brief (3 day) treatment with N-carbamylglutamate can improve ureagenesis in adult healthy controls and patients with the following inborn errors of metabolism: N-acetylglutamate synthetase deficiency, propionic acidemia, methylmalonic acidemia, carbamylphosphate synthase deficiency, ornithine transcarbamylase deficiency and the syndrome of hyperammonemia, hypoglycemia and hyperinsulinemia (HHH Syndrome). (clinicaltrials.gov)
  • We suggest including HHH syndrome in the differential diagnosis of patients found to have stroke-like lesions on brain MRI. (biomedsearch.com)
  • brain development that affect the corpus callosum, such as Aicardi syndrome, as well as two additional brain malformations, polymicrogyria and Dandy-Walker malformation. (bioportfolio.com)
  • It includes metabolic syndrome along with smoking and glucose in the diabetic range (and not just prediabetic range). (medindia.net)
  • Metabolic Syndrome is associated with sedentary lifestyle .It makes a person more prone to develop type 2 diabetes and coronary artery disease. (medindia.net)
  • 18753648 Brain-derived neurotrophic factor and obesity in the WAGR syndrome. (wikidot.com)
  • Diseases such as glucose-galactose malabsorption, Fanconi-Bickel syndrome and De Vivo disease (GLUT1 deficiency syndrome (GLUT1DS)) arise from heritable mutations in transporter-encoding genes that impair monosaccharide uptake, which becomes rate-limiting in tissues where the transporters serve as the main glucose carrier systems. (nih.gov)
  • We focus in greater detail on De Vivo disease as a prototype of a brain energy failure syndrome, for which the greatest pathophysiological detail is known, but which presents the most therapeutic challenges. (nih.gov)
  • Polycystic ovary syndrome (PCOS) is frequently associated with non-alcoholic fatty liver disease (NAFLD), but the mechanisms involved in the development of NAFLD in PCOS are not well known. (readbyqxmd.com)
  • Inborn errors of amino acid metabolism are associated with clinical disease in most cases. (allbest.ru)
  • Goal is to determine whether a 3 day trial of N-carbamylglutamate increases ureagenesis in patients with urea cycle defects and other inborn errors of metabolism. (clinicaltrials.gov)
  • It has been suggested that developmental defects of the corpus callosum may be more frequently encountered in patients with inborn errors of metabolism. (biomedsearch.com)
  • In patients with inborn errors of metabolism, dysgenesis of the corpus callosum serves as a marker for other developmental defects within the nervous system. (biomedsearch.com)
  • Epileptic encephalopathy can be induced by inborn metabolic defects that may be rare individually but in aggregate represent a substantial clinical portion of child neurology. (hindawi.com)
  • Large molecule diseases cover defects in glycosylation, lysosomal and peroxisomal function, and leukodystrophies. (hindawi.com)
  • ß-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain. (ru.nl)
  • Amino acids accumulate in body fluids when there are genetic defects i.e. inborn errors of metabolism (IEM), that affect their metabolism or transport. (allbest.ru)
  • Many substances are harmful to the developing foetus and phenylalanine appears to be one of these, hyperphenylalaninemia resulting in congenital heart defects and microcephaly (An abnormally small head and brain). (allbest.ru)
  • Defects in PAH, which cause classic phenylketonuria (PKU), increase serum phenylalanine concentrations and result in abnormal accumulation of phenylalanine-based metabolic products. (bu.edu)
  • Altered metabolism at the cellular level contributes to several serious diseases including inborn errors of metabolism (the result of inherited genetic defects in metabolic enzymes that lead to chemical imbalances in children) and cancer. (utsw.edu)
  • Brain Banks are biorepositories of central nervous system (CNS) tissue including fixed and frozen whole brains, brain biopsies and spinal cord, as well as body fluids comprising the cerebrospinal flui. (bioportfolio.com)
  • A nervous system disease that affects the peripheral nervous. (xenbase.org)
  • In addition, disease of the nervous system can arise as a result of the accumulation of glycosphingolipid metabolites in brain tissue. (alzheimer-europe.org)
  • These products cause defective myelination of the central nervous system and result in postnatal brain damage and severe mental retardation. (bu.edu)
  • However, another important pathophysiology of HIE refers to the disrupted integrity of blood-brain barrier (BBB), which is a physical and metabolic barrier that separates the peripheral circulation from the central nervous system and serves to regulate and protect the microenvironment of the brain [ 8 ]. (hindawi.com)
  • An endocrine system disease that is located_in the pancreas. (xenbase.org)
  • An endocrine system disease that is located_in the pituitary. (xenbase.org)
  • Agenesis of the corpus callosum and cerebral anomalies in inborn errors of metabolism. (biomedsearch.com)
  • Cobalamin C (Cbl-C) defect is the most common inborn error of cobalamin metabolism causing methylmalonic aciduria and homocystinuria. (tripdatabase.com)
  • Based on the above-mentioned and other literature evidence, it is now increasingly clear that any defect altering the tight regulation of purinergic transmission and of purine and pyrimidine metabolism during pre- and post-natal brain development may translate into functional deficits, which could be at the basis of severe pathologies characterized by mental retardation or other disturbances. (frontiersin.org)
  • In Wilson disease, a defect that impairs copper metabolism causes toxic levels of copper to accumulate in the liver and brain. (britannica.com)
  • Owing to the generalised nature of this inborn metabolic defect, multiple disease manifestations in individual patients were to be expected because Gb3 accumulation occurs in most non-neuronal tissues and body fluids. (bmj.com)
  • The metabolic defect in PKU is a failure in the hydroxylation of phenylalanine to tyrosine. (allbest.ru)
  • Sabatini and colleagues elucidated that loss of GLDC builds up glycine levels, resulting in funneling of glycine into metabolic pathways that generate toxic molecules, such as aminoacetone and methylglyoxal. (healthcanal.com)
  • Conclusion: Moco insufficiency compromises normal human body metabolism since it is reported to regulate the metabolic pathways of other elements. (ac.ir)
  • Although in recent years, substitution- and gene-therapies have been introduced to restore the metabolic pathways of patients with MoCD type A and B, the definitive treatment for this type of inborn disease has still remained ill-defined. (ac.ir)
  • Cancer cells use reprogrammed metabolic pathways to grow and resist stress encountered in the tumor microenvironment. (utsw.edu)
  • A major challenge in cancer research is understanding which metabolic pathways operate in live tumors growing in a native microenvironment. (utsw.edu)
  • Nineteen patients (10 males, 9 females) with confirmed metabolic diagnoses were identified by systematic search of the genetics clinic database. (biomedsearch.com)
  • A study of the complex genetics of brain development will be undertaken with an emphasis on those genes that cause the most common structural brain anomaly in humans called holoprosencepha. (bioportfolio.com)
  • This book will continue to provide an invaluable source of information for clinicians and scientists involved with Huntington's Disease, including geneticists, psychiatrists and neurologists, and basic science research workers in genetics and neurobiology. (oup.com)
  • Of the 41 patients who did not have an inborn error, three had acute liver failure and two had transient hyperammonaemia of the newborn. (bmj.com)
  • Acute Presentation and Management of the Encephalopathic Child With an Undiagnosed Inborn Error of Metabolism. (nih.gov)
  • A 2-year-old boy with GA1 and delayed developmental milestones had an acute neurological crisis leading to massive brain abscess with Citrobacter freundi infection, a rare cause of neonatal meningitis and often associated with brain abscess. (bvsalud.org)
  • Schilder's disease is a demyelinating disease, and as such, resembles the presentations of multiple sclerosis, neuromyelitis optica (Devic's disease), and acute disseminated encephalomyelitis (ADEM). (psychiatryadvisor.com)
  • They manifest with acute states of metabolic imbalance and chronic dysfunction of the brain, liver, heart and other organ systems. (utsw.edu)
  • The present study clarifies the action of L-serine using acute chick brain slices. (scirp.org)
  • For example in phenylketonuria there remains debate as to how the high plasma phenylalanine concentrations cause damage to the developing brain and to what extent the novel compounds, the phenylketones and the deficiency of neurotransmitters contribute to the pathophysiology. (allbest.ru)
  • Cystinosis is an inborn metabolic error characterized by the abnormal transport of cystine, an amino acid, out of the lysosomes. (science20.com)
  • Amino acids are more likely to accumulate the closer they are to the metabolic block. (allbest.ru)
  • PKU is the most common inborn error in amino acid metabolism of clinical importance (1 in 50 individuals carry the disease trait, with an average incidence of 1 in 10,000 for Caucasians). (bu.edu)
  • J. Mitoma, S. Furuya and Y. Hirabayashi, "A Novel Metabolic Communication between Neurons and Astrocytes: Non-Essential Amino Acid L-Serine Released from Astrocytes is Essential for Developing Hippocampal Neurons," Neuroscience Research, Vol. 30, No. 2, February 1998, pp. 195-199. (scirp.org)
  • Investigation in the Pathogenesis of Liver Disease in Patients With Inborn Errors of Bile Acid Metabolism. (clinicaltrials.gov)
  • Metabolic diseases can also occur when the liver or pancreas do not function properly. (wikipedia.org)
  • In humans, L-carnitine is made in the liver, kidney, and brain, and is transported to other areas of the body. (livingnaturally.com)
  • Moreover, cholesterol synthesis and elimination are markedly enhanced in the liver and brain of citrin-deficient children. (deepdyve.com)
  • Our Department is a major centre for the treatment of kidney, liver and metabolic diseases. (mh-hannover.de)
  • Diagnosis and therapy is available for children with inborn and acquired kidney and liver diseases. (mh-hannover.de)
  • L-2-hydroxyglutaric aciduria is a rare, autosomal-recessive, inborn error of metabolism characterized by a variable degree of progressive encephalopathy. (nih.gov)
  • Cystic fibrosis is an autosomal recessive disease in which a single mutation causes thick mucus to build up in the lungs and airways, producing severe respiratory problems. (britannica.com)
  • Some cultural groups have a high incidence of certain autosomal diseases because of long-held customs of intermarriage within the culture. (britannica.com)
  • In our body, the dis-orders of metabolism , Inborn Error Of Metabolism , possibly genetic inborn metabolic errors , are indicative to a specific set of signs, symptoms or other health indicators, associated with errors in metabolic processes resulting from inborn genetic mutations that may be inherited or acquired in utero. (wellnessadvocate.com)
  • Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. (curehunter.com)
  • Inborn errors of metabolism (IEMs) are childhood diseases that mutations in metabolic enzymes and nutrient transporters cause. (utsw.edu)
  • The study was begun with a single study site at Cincinnati Children's Hospital Medical Center (CCHMC), but in 2005 was expanded so that compassionate treatment could be provided to additional patients who had been identified with inborn errors of bile metabolism through the center's screening/diagnostic program. (clinicaltrials.gov)
  • This project is an observational prospective study in which patients affected by an adult onset Pompe disease will be followed-up during three years using different clinical, analytical and radiological tests in order to know which is the natural history of the disease and which is the impact that treatment with recombinant enzyme has in the progression of the disease. (clinicaltrials.gov)
  • Besides, as current treatment is challenging and unsuccessful in more than 30% of all epilepsy patients, these diseases may provide valuable models for ictogenesis and epileptogenesis studies and potentially pave the ways to identification of novel treatments. (springer.com)
  • Two groups of subjects will be constitute: (i) patients with circumscribed brain injury (including stroke, vascular malformations, tumor or circumscribed infectious lesions) or degenerativ. (bioportfolio.com)
  • Vitamin D levels, brain volume, and genetic architecture in patients with psychosis. (bioportfolio.com)
  • At a tertiary referral centre, just over 50% of patients with plasma ammonia values over 200 μmol/l had inborn errors of metabolism. (bmj.com)
  • Altogether, 54% of the patients had an inborn error of metabolism. (bmj.com)
  • The issue of vaccination in patients with diagnosed-or undiagnosed-metabolic disease has been an important question for those of us who care for patients with inborn errors of metabolism, but has come to the fore recently as an item of general interest. (leftbrainrightbrain.co.uk)
  • So, what do these experts think about vaccines and their patients with metabolic disease (mitochondrial or otherwise)? (leftbrainrightbrain.co.uk)
  • The present study was performed to investigate the presence of underlying metabolic diseases in patients with complex febrile seizures, using analyses of urine organic acids. (bvsalud.org)
  • This is the basic step that is blocked in our patients, and the disease is the result. (ucsd.edu)
  • In addition to world experts in the field of Cystinosis, the conference attracts Cystinosis patients and their families who want to hear the latest research in this rare lysosomal storage disease. (bio-medicine.org)
  • Such patients therefore have blond hair and blue eyes and certain normally pigmented parts of the brain (such as the substantia nigra) may also lack pigment [1]. (allbest.ru)
  • Inborn Metabolic Diseases: Diagnosis and Treatment. (wikipedia.org)
  • Plasma ammonia concentrations above 200 μmol/l, however, are generally thought to be highly suggestive of an inborn error of metabolism. (bmj.com)
  • In our body, the metabolic inborn error , Familial Amyloidosis , a familial pattern of the amyloidosis , is a dis-ease processes of an abnormal protein folding and amyloid deposits. (wellnessadvocate.com)
  • Extended Abstract: Deficiency of Sodium Taurocholate Cotransporting Polypeptide (SLC10A1): A New Inborn Error of Metabolism with an Attenuated Phenotype. (nih.gov)
  • Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges. (nih.gov)
  • Procreation in families with inborn error of metabolism--new challenges for medical care. (nih.gov)
  • Living with an inborn error of metabolism detected by newborn screening-parents' perspectives on child development and impact on family life. (nih.gov)
  • Review: Human guanidinoacetate n-methyl transferase (GAMT) deficiency: A treatable inborn error of metabolism. (nih.gov)
  • Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): An 8 year journey from pilot to current program. (nih.gov)
  • Biotinidase Deficiency: A Treatable Neurological Inborn Error of Metabolism. (nih.gov)
  • Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. (nih.gov)
  • Glutaric aciduria type 1 (GA1) is an inborn error of organic acid metabolism, where the brain is the principal organ affected with exposure to toxic metabolic product, 3-hydroxyglutaric acid (3-OHGA). (bvsalud.org)
  • The precise trigger for Schilder's disease is unknown, but given its young age of onset, it could represent a more aggressive genetic or inborn metabolic error than other demyelinating diseases with adult onset. (psychiatryadvisor.com)
  • Xanthinuria: an inborn error (or deviation) of metabolism. (ac.ir)
  • In the infantile, neuronopathic form (Type 2) visceral and neurological involvement is prominent and infants with the disease typically die before the age of 2 years. (alzheimer-europe.org)
  • Neonatal hypoxic-ischemic encephalopathy (HIE), a common cause of neurological deficits in adulthood, can lead to severe brain damage through cerebral hypoxia or ischemia during the perinatal period in infants [ 1 ]. (hindawi.com)
  • In our body, Progeroid Syndromes (Progeria) , aka Premature Aging Syndromes, are rare group of accelerated aging dis-orders , with possibly genetic inborn metabolic errors , characterized by clinical features mimicking physiological aging at an early age, and may cause real premature aging with shorten life expectancies. (wellnessadvocate.com)
  • GLDC caught the researchers' attention as they investigated diseases known as "inborn errors of metabolism," which occur when cells are missing certain metabolic enzymes. (healthcanal.com)
  • NOVATO, California, February 10 /PRNewswire/ -- Raptor Pharmaceutical Corp. (Raptor or the Company) , today announced the presentation of cystinosis data at the Annual Lysosomal Disease Network WORLD Symposium 2010, being held February 10-12 in Miami, Florida. (science20.com)
  • Patrice P. Rioux, M.D., Ph.D., Chief Medical Officer said, We are pleased to share our most recent biomarker findings with the Lysosomal Disease Network, and have taken advantage of this opportunity to further contribute to the study and treatment of cystinosis. (science20.com)
  • Parents of children with chronic diseases often report increased level of stress and anxiety. (bioportfolio.com)
  • Raptor currently has product candidates in clinical development designed to potentially treat nephropathic cystinosis, non-alcoholic steatohepatitis (NASH), Huntington's Disease (HD), aldehyde dehydrogenase (ALDH2) deficiency, and a non-opioid solution designed to potentially treat chronic pain. (science20.com)
  • Ornithine Carbamoyltransferase Deficiency Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (umassmed.edu)
  • This graph shows the total number of publications written about "Ornithine Carbamoyltransferase Deficiency Disease" by people in this website by year, and whether "Ornithine Carbamoyltransferase Deficiency Disease" was a major or minor topic of these publications. (umassmed.edu)
  • Below are the most recent publications written about "Ornithine Carbamoyltransferase Deficiency Disease" by people in Profiles. (umassmed.edu)
  • The principal objective of the study is to find biomarkers that quantify the natural progression of the disease and to know if they are useful to determine the improvement or lack of impairment of the disease in response to Enzyme Replacement Therapy (ERT). (clinicaltrials.gov)
  • A European consensus on the management of Gaucher disease recommended enzyme replacement therapy with macrophage-targeted recombinant human glucocerebrosidase and found that it ameliorates systemic involvement and enhanced quality of life. (alzheimer-europe.org)
  • Without this enzyme, toxic metabolic byproducts build up inside the tumor cells, and they die. (healthcanal.com)
  • The phenylpyruvic acid has also been shown to inhibit the enzyme pyruvate decarboxylase in brain. (allbest.ru)
  • K. Snell and D. A. Fell, "Metabolic Control Analysis of Mam-Malian Serine Metabolism," Advances in Enzyme Regulation, Vol. 30, 1990, pp. 13-32. (scirp.org)
  • Since publication of the first two editions of this book, there have been considerable insights into how the mutation leads to the molecular pathology, neuropathology and clinical symptoms of Huntington's Disease, and experimental tools are now in place to take this research further towards new therapeutic approaches. (oup.com)
  • What other disease/condition shares some of these symptoms? (psychiatryadvisor.com)
  • Apgar scores and magnetic resonance image scans were used to estimate the symptoms and brain damage. (hindawi.com)
  • Agrin and perlecan in the pathogenesis of Alzheimer's disease. (ru.nl)
  • TY - BOOK ID - 1178823 TI - Geestelijk gehandicapten, seksualiteit en erotiek AU - Sporken, Paul AU - Sporken, P.C. AU - Sporken, P. PY - 1973 SN - 9026615868 PB - Nijkerk Callenbach DB - UniCat KW - patiënt KW - Psychiatry KW - Sexology KW - personen met een beperking KW - seksualiteit KW - Intellectual Disability. (unicat.be)
  • Failure to treat the disease can cause serious health consequences, including renal failure and resultant kidney transplant, growth failure, rickets, photophobia and blindness. (bio-medicine.org)
  • Lipid deposits are prominent in the endothelium and the media of small vessels, renal tubules and glomeruli, cardiac muscle and conducting fibres, autonomic ganglia, and in specific cortical and brain stem structures. (bmj.com)
  • These histopathological findings explain the protean clinical manifestations of the disease, of which the most significant are renal failure, cardiomyopathy, and multiple cerebrovascular accidents (CVAs) causing premature death. (bmj.com)
  • After extensive search, 880 human genes were identified with a considerable part, 373 genes (42%), associated with inborn errors of metabolism. (springer.com)
  • Extensive list of 373 epilepsy- or seizures-associated inborn errors of metabolism genes may be of value in development of gene panels and as a tool for variants' filtration. (springer.com)
  • In inborn errors of metabolism, we use metabolomics and genomics to identify new disease genes and deepen our understanding of metabolism's role in human health. (utsw.edu)
  • Cox TM: Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses. (alzheimer-europe.org)
  • Copper and ceruloplasmin levels were low and gross deletion of ATP7A gene was found confirming the diagnosis of Menkes disease. (bvsalud.org)
  • An international team of scientists, led by researchers at the University of California, San Diego School of Medicine, has discovered the gene mutation responsible for a condition in which eye and brain development is severely disrupted in affected infants. (ucsd.edu)
  • We are also able to correlate metabolic activity with gene expression and histological features. (utsw.edu)
  • A pericardium disease that is characterized by an abnormal a. (xenbase.org)
  • A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity. (xenbase.org)
  • A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). (xenbase.org)
  • Maple Syrup Urine Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (uchicago.edu)
  • We expect to find a biomarker useful to follow-up the progression of Pompe disease. (clinicaltrials.gov)
  • 1) A mere oral sensation of CHO elicits physiological anticipation response (cephalic phase) that is either inborn or rapidly conditioned. (frontiersin.org)
  • In our body, the metabolic dis-order , Hereditary Hyperbilirubinemia is an allopathic name of dis-orders, involving inborn errors of bilirubin metabolism resulting in excessive amounts of circulating blood bilirubin ( hyperbilirubinemia ). (wellnessadvocate.com)
  • Development of a Quality of Life Measurement Scale in Hereditary Haemorrhagic Telangiectasia (HHT) Disease. (haemophiliacentral.org)
  • More typical EEG findings in metabolic encephalopathies are burst suppression, hypsarrhythmia, and generalized spike-wave discharges. (hindawi.com)
  • The severe tremors, muscle twitching, and dementia seen in Huntington's disease are caused by degeneration of neurons in the part of the brain that controls movement. (britannica.com)
  • Reporting bias towards the milder and severe ends of the disease spectrum is therefore a possibility. (bmj.com)
  • Parkinson's disease (PD) is a neurodegenerative disease characterized by selective degeneration of dopaminergic neurons in the substantia nigra (SN). (semanticscholar.org)
  • A condition characterized by long-standing brain dysfunction or damage, usually of three months duration or longer. (bioportfolio.com)
  • Acquired or inborn metabolic diseases that produce brain dysfunction or damage. (sickkids.ca)