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.

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)

Some common types of brain diseases include:

1. Neurodegenerative diseases: These are progressive conditions that damage or kill brain cells over time, leading to memory loss, cognitive decline, and movement disorders. Examples include Alzheimer's disease, Parkinson's disease, Huntington's disease, and amyotrophic lateral sclerosis (ALS).
2. Stroke: This occurs when blood flow to the brain is interrupted, leading to cell death and potential long-term disability.
3. Traumatic brain injury (TBI): This refers to any type of head injury that causes damage to the brain, such as concussions, contusions, or penetrating wounds.
4. Infections: Viral, bacterial, and fungal infections can all affect the brain, leading to a range of symptoms including fever, seizures, and meningitis.
5. Tumors: Brain tumors can be benign or malignant and can cause a variety of symptoms depending on their location and size.
6. Cerebrovascular diseases: These conditions affect the blood vessels of the brain, leading to conditions such as aneurysms, arteriovenous malformations (AVMs), and Moyamoya disease.
7. Neurodevelopmental disorders: These are conditions that affect the development of the brain and nervous system, such as autism spectrum disorder, ADHD, and intellectual disability.
8. Sleep disorders: Conditions such as insomnia, narcolepsy, and sleep apnea can all have a significant impact on brain function.
9. Psychiatric disorders: Mental health conditions such as depression, anxiety, and schizophrenia can affect the brain and its functioning.
10. Neurodegenerative with brain iron accumulation: Conditions such as Parkinson's disease, Alzheimer's disease, and Huntington's disease are characterized by the accumulation of abnormal proteins and other substances in the brain, leading to progressive loss of brain function over time.

It is important to note that this is not an exhaustive list and there may be other conditions or factors that can affect the brain and its functioning. Additionally, many of these conditions can have a significant impact on a person's quality of life, and it is important to seek medical attention if symptoms persist or worsen over time.

Examples of brain diseases, metabolic, inborn include:

1. Phenylketonuria (PKU): A genetic disorder that affects the body's ability to break down the amino acid phenylalanine, leading to a buildup of toxic substances in the brain and blood.
2. Maple syrup urine disease (MSUD): Another genetic disorder that affects the body's ability to break down certain amino acids, resulting in a distinctive odor in the urine and potential brain damage if left untreated.
3. Mucopolysaccharidoses (MPS): A group of inherited diseases that affect the body's ability to produce or break down certain sugars, leading to progressive damage to various organs and systems, including the brain and nervous system.
4. Fabry disease: An inherited disorder caused by a deficiency of an enzyme called alpha-galactosidase A, which leads to the accumulation of a fatty substance in the body's cells and tissues, including the brain.
5. Mitochondrial disorders: A group of conditions caused by mutations or errors in the DNA of mitochondria, the energy-producing structures within cells. These disorders can affect various organs and systems, including the brain and nervous system.

These conditions are often treated with a combination of dietary restrictions, medication, and other therapies to manage symptoms and prevent complications. In some cases, bone marrow transplantation or enzyme replacement therapy may be necessary. Early detection and intervention can help improve outcomes for individuals with these conditions.

Encephalitis can cause a range of symptoms, including fever, headache, confusion, seizures, and loss of consciousness. In severe cases, encephalitis can lead to brain damage, coma, and even death.

The diagnosis of encephalitis is based on a combination of clinical signs, laboratory tests, and imaging studies. Laboratory tests may include blood tests to detect the presence of antibodies or antigens specific to the causative agent, as well as cerebrospinal fluid (CSF) analysis to look for inflammatory markers and/or bacteria or viruses in the CSF. Imaging studies, such as CT or MRI scans, may be used to visualize the brain and identify any areas of damage or inflammation.

Treatment of encephalitis typically involves supportive care, such as intravenous fluids, oxygen therapy, and medication to manage fever and pain. Antiviral or antibacterial drugs may be used to target the specific causative agent, if identified. In severe cases, hospitalization in an intensive care unit (ICU) may be necessary to monitor and manage the patient's condition.

Prevention of encephalitis includes vaccination against certain viruses that can cause the condition, such as herpes simplex virus and Japanese encephalitis virus. Additionally, avoiding exposure to mosquitoes and other insects that can transmit viruses or bacteria that cause encephalitis, as well as practicing good hygiene and sanitation, can help reduce the risk of infection.

Overall, encephalitis is a serious and potentially life-threatening condition that requires prompt medical attention for proper diagnosis and treatment. With appropriate care, many patients with encephalitis can recover fully or partially, but some may experience long-term neurological complications or disability.

The main symptoms of MPS I include:

1. Coarse facial features, such as a large head, prominent forehead, and widely spaced eyes.
2. Short stature and joint deformities, particularly in the hands and feet.
3. Heart valve problems and potential heart failure.
4. Respiratory issues, including sleep apnea and difficulty breathing.
5. Developmental delays and intellectual disability.
6. Vision loss or blindness.
7. Hearing loss or deafness.
8. Increased risk of infections.

MPS I is caused by a deficiency of the enzyme alpha-L-iduronidase, which is needed to break down a specific type of sugar called glycosaminoglycans (GAGs). This accumulation of GAGs in cells and tissues leads to the signs and symptoms of the disorder.

There are several types of MPS I, ranging from mild to severe, and they are classified based on the level of enzyme deficiency and the severity of symptoms. Treatment options for MPS I include enzyme replacement therapy (ERT), which involves replacing the missing enzyme with a synthetic version, as well as other supportive therapies to manage symptoms and prevent complications. Bone marrow transplantation is also being studied as a potential treatment option for MPS I.

In summary, mucopolysaccharidosis type I (MPS I) is a rare genetic disorder that affects the body's ability to break down sugar molecules, leading to progressive damage to various parts of the body and a range of symptoms including joint deformities, heart problems, developmental delays, and vision and hearing loss.

There are several types of leukoencephalopathies, each with its own unique set of causes and characteristics. Some of the most common include:

1. Adrenoleukodystrophy (ALD): A genetic disorder that affects the breakdown of fatty acids in the body, leading to the accumulation of toxic substances in the brain.
2. Metachromatic leukodystrophy (MLD): A genetic disorder that affects the metabolism of certain fats in the body, leading to the accumulation of toxic substances in the brain.
3. Krabbe disease: A rare genetic disorder that affects the breakdown of a substance called galactocerebroside in the brain, leading to the accumulation of toxic substances and progressive damage to the nervous system.
4. Niemann-Pick disease: A group of inherited disorders that affect the metabolism of certain fats in the body, leading to the accumulation of toxic substances in the brain and other organs.
5. Alexander disease: A rare genetic disorder that affects the breakdown of a substance called galactose in the brain, leading to the accumulation of toxic substances and progressive damage to the nervous system.

The symptoms of leukoencephalopathies can vary depending on the specific type of disorder and the severity of the disease. Common symptoms include:

* Cognitive impairment: Difficulty with learning, memory, and problem-solving skills.
* Motor dysfunction: Weakness, rigidity, or tremors in the muscles.
* Seizures: Abnormal electrical activity in the brain that can cause convulsions or other symptoms.
* Vision loss: Blindness or vision impairment due to damage to the optic nerve.
* Speech difficulties: Slurred speech, difficulty with articulation, or other communication challenges.
* Behavioral changes: Increased irritability, aggression, or other behavioral problems.

There is no cure for leukoencephalopathies, but treatment options are available to manage the symptoms and slow the progression of the disease. These may include:

1. Physical therapy: To improve motor function and reduce muscle weakness.
2. Occupational therapy: To improve daily living skills and cognitive function.
3. Speech therapy: To improve communication skills and address swallowing difficulties.
4. Medications: To control seizures, muscle spasms, or other symptoms.
5. Nutritional support: To ensure adequate nutrition and address any feeding challenges.
6. Respiratory support: To assist with breathing and manage respiratory infections.
7. Psychological support: To address behavioral changes and other psychological issues.

The prognosis for leukoencephalopathies is generally poor, as the diseases tend to progress rapidly and can lead to significant disability or death within a few years of onset. However, with appropriate management and support, many individuals with these conditions can achieve a good quality of life and live well into adulthood. It is important for families to work closely with healthcare providers to develop a comprehensive treatment plan that addresses their child's specific needs and provides ongoing support throughout their lives.

These disorders can cause a range of symptoms including cognitive impairment, confusion, memory loss, seizures, and changes in behavior and mood. Treatment options for brain disease metabolic disorders vary depending on the specific condition and may include medication, lifestyle changes, and other interventions such as surgery or rehabilitation therapy.

Examples of brain diseases, metabolic include:

* Hypoglycemia (low blood sugar)
* Hyperglycemia (high blood sugar)
* Diabetes mellitus (type 1 and type 2)
* Metabolic stroke
* Traumatic brain injury
* Neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, and Huntington's disease.

It is important to note that while these conditions are considered metabolic disorders, they can also have a significant impact on other aspects of an individual's life, including their mood, behavior, and cognitive functioning. Therefore, it is important to seek medical attention if symptoms persist or worsen over time.

The symptoms of Alzheimer's disease can vary from person to person and may progress slowly over time. Early symptoms may include memory loss, confusion, and difficulty with problem-solving. As the disease progresses, individuals may experience language difficulties, visual hallucinations, and changes in mood and behavior.

There is currently no cure for Alzheimer's disease, but there are several medications and therapies that can help manage its symptoms and slow its progression. These include cholinesterase inhibitors, memantine, and non-pharmacological interventions such as cognitive training and behavioral therapy.

Alzheimer's disease is a significant public health concern, affecting an estimated 5.8 million Americans in 2020. It is the sixth leading cause of death in the United States, and its prevalence is expected to continue to increase as the population ages.

There is ongoing research into the causes and potential treatments for Alzheimer's disease, including studies into the role of inflammation, oxidative stress, and the immune system. Other areas of research include the development of biomarkers for early detection and the use of advanced imaging techniques to monitor progression of the disease.

Overall, Alzheimer's disease is a complex and multifactorial disorder that poses significant challenges for individuals, families, and healthcare systems. However, with ongoing research and advances in medical technology, there is hope for improving diagnosis and treatment options in the future.

There are several different types of brain injuries that can occur, including:

1. Concussions: A concussion is a type of mild traumatic brain injury that occurs when the brain is jolted or shaken, often due to a blow to the head.
2. Contusions: A contusion is a bruise on the brain that can occur when the brain is struck by an object, such as during a car accident.
3. Coup-contrecoup injuries: This type of injury occurs when the brain is injured as a result of the force of the body striking another object, such as during a fall.
4. Penetrating injuries: A penetrating injury occurs when an object pierces the brain, such as during a gunshot wound or stab injury.
5. Blast injuries: This type of injury occurs when the brain is exposed to a sudden and explosive force, such as during a bombing.

The symptoms of brain injuries can vary depending on the severity of the injury and the location of the damage in the brain. Some common symptoms include:

* Headaches
* Dizziness or loss of balance
* Confusion or disorientation
* Memory loss or difficulty with concentration
* Slurred speech or difficulty with communication
* Vision problems, such as blurred vision or double vision
* Sleep disturbances
* Mood changes, such as irritability or depression
* Personality changes
* Difficulty with coordination and balance

In some cases, brain injuries can be treated with medication, physical therapy, and other forms of rehabilitation. However, in more severe cases, the damage may be permanent and long-lasting. It is important to seek medical attention immediately if symptoms persist or worsen over time.

Brain neoplasms can arise from various types of cells in the brain, including glial cells (such as astrocytes and oligodendrocytes), neurons, and vascular tissues. The symptoms of brain neoplasms vary depending on their size, location, and type, but may include headaches, seizures, weakness or numbness in the limbs, and changes in personality or cognitive function.

There are several different types of brain neoplasms, including:

1. Meningiomas: These are benign tumors that arise from the meninges, the thin layers of tissue that cover the brain and spinal cord.
2. Gliomas: These are malignant tumors that arise from glial cells in the brain. The most common type of glioma is a glioblastoma, which is aggressive and hard to treat.
3. Pineal parenchymal tumors: These are rare tumors that arise in the pineal gland, a small endocrine gland in the brain.
4. Craniopharyngiomas: These are benign tumors that arise from the epithelial cells of the pituitary gland and the hypothalamus.
5. Medulloblastomas: These are malignant tumors that arise in the cerebellum, specifically in the medulla oblongata. They are most common in children.
6. Acoustic neurinomas: These are benign tumors that arise on the nerve that connects the inner ear to the brain.
7. Oligodendrogliomas: These are malignant tumors that arise from oligodendrocytes, the cells that produce the fatty substance called myelin that insulates nerve fibers.
8. Lymphomas: These are cancers of the immune system that can arise in the brain and spinal cord. The most common type of lymphoma in the CNS is primary central nervous system (CNS) lymphoma, which is usually a type of B-cell non-Hodgkin lymphoma.
9. Metastatic tumors: These are tumors that have spread to the brain from another part of the body. The most common types of metastatic tumors in the CNS are breast cancer, lung cancer, and melanoma.

These are just a few examples of the many types of brain and spinal cord tumors that can occur. Each type of tumor has its own unique characteristics, such as its location, size, growth rate, and biological behavior. These factors can help doctors determine the best course of treatment for each patient.

The term "schizophrenia" was first used by the Swiss psychiatrist Eugen Bleuler in 1908 to describe the splitting of mental functions, which he believed was a key feature of the disorder. The word is derived from the Greek words "schizein," meaning "to split," and "phrenos," meaning "mind."

There are several subtypes of schizophrenia, including:

1. Paranoid Schizophrenia: Characterized by delusions of persecution and suspicion, and a tendency to be hostile and defensive.
2. Hallucinatory Schizophrenia: Characterized by hearing voices or seeing things that are not there.
3. Disorganized Schizophrenia: Characterized by disorganized thinking and behavior, and a lack of motivation or interest in activities.
4. Catatonic Schizophrenia: Characterized by immobility, mutism, and other unusual movements or postures.
5. Undifferentiated Schizophrenia: Characterized by a combination of symptoms from the above subtypes.

The exact cause of schizophrenia is still not fully understood, but it is believed to involve a combination of genetic, environmental, and neurochemical factors. It is important to note that schizophrenia is not caused by poor parenting or a person's upbringing.

There are several risk factors for developing schizophrenia, including:

1. Genetics: A person with a family history of schizophrenia is more likely to develop the disorder.
2. Brain chemistry: Imbalances in neurotransmitters such as dopamine and serotonin have been linked to schizophrenia.
3. Prenatal factors: Factors such as maternal malnutrition or exposure to certain viruses during pregnancy may increase the risk of schizophrenia in offspring.
4. Childhood trauma: Traumatic events during childhood, such as abuse or neglect, have been linked to an increased risk of developing schizophrenia.
5. Substance use: Substance use has been linked to an increased risk of developing schizophrenia, particularly cannabis and other psychotic substances.

There is no cure for schizophrenia, but treatment can help manage symptoms and improve quality of life. Treatment options include:

1. Medications: Antipsychotic medications are the primary treatment for schizophrenia. They can help reduce positive symptoms such as hallucinations and delusions, and negative symptoms such as a lack of motivation or interest in activities.
2. Therapy: Cognitive-behavioral therapy (CBT) and other forms of talk therapy can help individuals with schizophrenia manage their symptoms and improve their quality of life.
3. Social support: Support from family, friends, and support groups can be an important part of the treatment plan for individuals with schizophrenia.
4. Self-care: Engaging in activities that bring pleasure and fulfillment, such as hobbies or exercise, can help individuals with schizophrenia improve their overall well-being.

It is important to note that schizophrenia is a complex condition, and treatment should be tailored to the individual's specific needs and circumstances. With appropriate treatment and support, many people with schizophrenia are able to lead fulfilling lives and achieve their goals.

1) They share similarities with humans: Many animal species share similar biological and physiological characteristics with humans, making them useful for studying human diseases. For example, mice and rats are often used to study diseases such as diabetes, heart disease, and cancer because they have similar metabolic and cardiovascular systems to humans.

2) They can be genetically manipulated: Animal disease models can be genetically engineered to develop specific diseases or to model human genetic disorders. This allows researchers to study the progression of the disease and test potential treatments in a controlled environment.

3) They can be used to test drugs and therapies: Before new drugs or therapies are tested in humans, they are often first tested in animal models of disease. This allows researchers to assess the safety and efficacy of the treatment before moving on to human clinical trials.

4) They can provide insights into disease mechanisms: Studying disease models in animals can provide valuable insights into the underlying mechanisms of a particular disease. This information can then be used to develop new treatments or improve existing ones.

5) Reduces the need for human testing: Using animal disease models reduces the need for human testing, which can be time-consuming, expensive, and ethically challenging. However, it is important to note that animal models are not perfect substitutes for human subjects, and results obtained from animal studies may not always translate to humans.

6) They can be used to study infectious diseases: Animal disease models can be used to study infectious diseases such as HIV, TB, and malaria. These models allow researchers to understand how the disease is transmitted, how it progresses, and how it responds to treatment.

7) They can be used to study complex diseases: Animal disease models can be used to study complex diseases such as cancer, diabetes, and heart disease. These models allow researchers to understand the underlying mechanisms of the disease and test potential treatments.

8) They are cost-effective: Animal disease models are often less expensive than human clinical trials, making them a cost-effective way to conduct research.

9) They can be used to study drug delivery: Animal disease models can be used to study drug delivery and pharmacokinetics, which is important for developing new drugs and drug delivery systems.

10) They can be used to study aging: Animal disease models can be used to study the aging process and age-related diseases such as Alzheimer's and Parkinson's. This allows researchers to understand how aging contributes to disease and develop potential treatments.

Some common types of mental disorders include:

1. Anxiety disorders: These conditions cause excessive worry, fear, or anxiety that interferes with daily life. Examples include generalized anxiety disorder, panic disorder, and social anxiety disorder.
2. Mood disorders: These conditions affect a person's mood, causing feelings of sadness, hopelessness, or anger that persist for weeks or months. Examples include depression, bipolar disorder, and seasonal affective disorder.
3. Personality disorders: These conditions involve patterns of thought and behavior that deviate from the norm of the average person. Examples include borderline personality disorder, narcissistic personality disorder, and antisocial personality disorder.
4. Psychotic disorders: These conditions cause a person to lose touch with reality, resulting in delusions, hallucinations, or disorganized thinking. Examples include schizophrenia, schizoaffective disorder, and brief psychotic disorder.
5. Trauma and stressor-related disorders: These conditions develop after a person experiences a traumatic event, such as post-traumatic stress disorder (PTSD).
6. Dissociative disorders: These conditions involve a disconnection or separation from one's body, thoughts, or emotions. Examples include dissociative identity disorder (formerly known as multiple personality disorder) and depersonalization disorder.
7. Neurodevelopmental disorders: These conditions affect the development of the brain and nervous system, leading to symptoms such as difficulty with social interaction, communication, and repetitive behaviors. Examples include autism spectrum disorder, attention deficit hyperactivity disorder (ADHD), and Rett syndrome.

Mental disorders can be diagnosed by a mental health professional using the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), which provides criteria for each condition. Treatment typically involves a combination of medication and therapy, such as cognitive-behavioral therapy or psychodynamic therapy, depending on the specific disorder and individual needs.

The word "edema" comes from the Greek word "oidema", meaning swelling.

The term ischemia refers to the reduction of blood flow, and it is often used interchangeably with the term stroke. However, not all strokes are caused by ischemia, as some can be caused by other factors such as bleeding in the brain. Ischemic stroke accounts for about 87% of all strokes.

There are different types of brain ischemia, including:

1. Cerebral ischemia: This refers to the reduction of blood flow to the cerebrum, which is the largest part of the brain and responsible for higher cognitive functions such as thought, emotion, and voluntary movement.
2. Cerebellar ischemia: This refers to the reduction of blood flow to the cerebellum, which is responsible for coordinating and regulating movement, balance, and posture.
3. Brainstem ischemia: This refers to the reduction of blood flow to the brainstem, which is responsible for controlling many of the body's automatic functions such as breathing, heart rate, and blood pressure.
4. Territorial ischemia: This refers to the reduction of blood flow to a specific area of the brain, often caused by a blockage in a blood vessel.
5. Global ischemia: This refers to the reduction of blood flow to the entire brain, which can be caused by a cardiac arrest or other systemic conditions.

The symptoms of brain ischemia can vary depending on the location and severity of the condition, but may include:

1. Weakness or paralysis of the face, arm, or leg on one side of the body
2. Difficulty speaking or understanding speech
3. Sudden vision loss or double vision
4. Dizziness or loss of balance
5. Confusion or difficulty with memory
6. Seizures
7. Slurred speech or inability to speak
8. Numbness or tingling sensations in the face, arm, or leg
9. Vision changes, such as blurred vision or loss of peripheral vision
10. Difficulty with coordination and balance.

It is important to seek medical attention immediately if you experience any of these symptoms, as brain ischemia can cause permanent damage or death if left untreated.

The symptoms of a brain abscess can vary depending on the location and size of the abscess, but may include:

* Headache
* Fever
* Confusion or disorientation
* Seizures
* Weakness or numbness in the arms or legs
* Vision problems
* Speech difficulties

If a brain abscess is suspected, a doctor will typically perform a physical examination and order imaging tests such as CT or MRI scans to confirm the diagnosis. Treatment usually involves antibiotics to treat the underlying infection, as well as surgery to drain the abscess and remove any infected tissue. In severe cases, hospitalization may be necessary to monitor and treat the patient.

With prompt and appropriate treatment, most people with a brain abscess can recover fully or almost fully, but in some cases, the condition can result in long-term complications such as memory loss, cognitive impairment, or personality changes. In rare instances, a brain abscess can be fatal if not treated promptly and properly.

Brain hypoxia is a serious medical condition that requires prompt treatment to prevent long-term damage and improve outcomes for patients. Treatment options may include oxygen therapy, medications to improve blood flow to the brain, and surgery to remove any blockages or obstructions in blood vessels.

Some common causes of chronic brain damage include:

1. Traumatic brain injury (TBI): A blow to the head or other traumatic injury that causes the brain to bounce or twist inside the skull, leading to damage to brain cells and tissues.
2. Stroke or cerebral vasculature disorders: A loss of blood flow to the brain due to a blockage or rupture of blood vessels, leading to cell death and tissue damage.
3. Infections such as meningitis or encephalitis: Inflammation of the brain and its membranes caused by viral or bacterial infections, which can lead to damage to brain cells and tissues.
4. Chronic exposure to toxins, such as pesticides or heavy metals: Prolonged exposure to these substances can damage brain cells and tissues over time.
5. Neurodegenerative diseases, such as Alzheimer's disease or Parkinson's disease: These conditions are characterized by the progressive loss of brain cells and tissue, leading to cognitive decline and other symptoms.

The effects of chronic brain damage can vary depending on the location and severity of the damage. Some common effects include:

1. Cognitive impairments: Difficulty with memory, attention, problem-solving, and other cognitive functions.
2. Emotional and behavioral changes: Depression, anxiety, irritability, and mood swings.
3. Physical symptoms: Weakness or paralysis on one side of the body, difficulty with balance and coordination, and changes in sensation or perception.
4. Communication difficulties: Slurred speech, difficulty finding the right words, and trouble understanding spoken language.
5. Social and occupational impairments: Difficulty with daily activities, social interactions, and work-related tasks.

The good news is that there are several strategies that can help mitigate the effects of chronic brain damage. These include:

1. Physical exercise: Regular physical activity has been shown to promote brain health and reduce the risk of cognitive decline.
2. Cognitive stimulation: Engaging in mentally challenging activities, such as reading, puzzles, or learning a new skill, can help build cognitive reserve and reduce the risk of cognitive decline.
3. Social engagement: Building and maintaining social connections has been shown to promote brain health and reduce the risk of cognitive decline.
4. Stress management: Chronic stress can exacerbate brain damage, so finding ways to manage stress, such as through meditation or exercise, is important.
5. Proper nutrition: Eating a diet rich in fruits, vegetables, and omega-3 fatty acids can help support brain health and reduce the risk of cognitive decline.
6. Medication and therapy: In some cases, medication or therapy may be necessary to manage the symptoms of chronic brain damage.
7. Neuroplasticity-based interventions: Techniques that promote neuroplasticity, such as non-invasive brain stimulation, can help improve cognitive function and reduce the risk of cognitive decline.

It's important to note that these strategies may not reverse chronic brain damage, but they can help mitigate its effects and improve overall brain health. If you suspect that you or someone you know may be experiencing chronic brain damage, it is important to seek medical attention as soon as possible. Early diagnosis and treatment can help reduce the risk of long-term cognitive decline and improve quality of life.

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 Hypermetabolism "MeSH Descriptor Data: Metabolic diseases". ... 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 ...
... 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- ...
Fernandes, John; Saudubray, Jean-Marie; Berghe, Georges van den; Walter, John H. (22 November 2006). Inborn Metabolic Diseases ... Carbidopa/levodopa is used to increase brain dopamine levels in the treatment of Parkinson's disease while carbidopa/oxitriptan ... Salat D, Tolosa E (January 2013). "Levodopa in the treatment of Parkinson's disease: current status and new developments". J ... Kohlstadt, Ingrid (19 April 2016). Food and Nutrients in Disease Management. ISBN 9781420067637. ...
... brain death MeSH C10.228.140.163 - brain diseases, metabolic MeSH C10. - 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. - brain concussion MeSH C10. - ...
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 ...
... and trauma to the brain and spinal cord. Metabolic causes includes: glycogen storage disease type II, pyruvate dehydrogenase ... Brain malformations and inborn errors of metabolism account for 13% and 3% respectively. Causes that affects the central ... MRI Brain is used to rule out structural malformations in the brain or metabolic disorders. Magnetic resonance spectroscopic ... Prasad, Asuri N.; Prasad, Chitra (October 2003). "The floppy infant: contribution of genetic and metabolic disorders". Brain ...
"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 ...
The following symptoms are reported in the literature: metabolic acidosis coma hypoglycemia seizures gastrointestinal disease ... It is speculated that an upregulation of β-oxidation also occurs in brain cells due to the hypofunctional mtFASII pathway. The ... and possibly one of the most common inborn errors of metabolism. Due to being infrequently diagnosed, it most often goes ... The metabolic Basis of Inherited Disease (5th ed.). New York. pp. 474-497. Scharinger, Marwa; Kuntz, Marcel; Scharinger, ...
Jordaan GP, Emsley R (June 2014). "Alcohol-induced psychotic disorder: a review". Metabolic Brain Disease. 29 (2): 231-243. doi ... termed postpartum psychosis inborn errors of metabolism, such as Wilson's disease, porphyria, and homocysteinemia. nutritional ... "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 ...
Neonatal epilepsy may be credited to genetic syndromes, developmental structural brain abnormalities, or metabolic diseases. ... inborn errors of metabolism, transient metabolic and brain malformations, lead to acute symptomatic seizures. ... Seizures in the developing brain are more common than in a mature brain for several reasons. First, the developing brain is ... Further testing includes evaluation for genetic causes and other more rare metabolic causes. Brain injury such as cerebral ...
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 ...
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) ...
K. Tada; N.R.M. Buist; John Fernandes; Jean-Marie Saudubray; Georges van den Berghe (14 March 2013). Inborn Metabolic Diseases ... Metabolic crisis leading to seizures, coma, and brain damage is still a possibility. Symptoms associated with thiamine-response ... the odour of maple syrup urine disease". Journal of Inherited Metabolic Disease. 22 (2): 107-114. doi:10.1023/A:1005433516026. ... The disease is named for the presence of sweet-smelling urine, similar to maple syrup, when the person goes into metabolic ...
... is a rapidly worsening brain disease. Symptoms of Reye syndrome may include vomiting, personality changes, ... 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. The syndrome is associated with changes on blood tests such as a high blood ... Inborn errors of metabolism are also a risk factor. The association with aspirin has been shown through epidemiological studies ...
Journal of Inherited Metabolic Disease. 8 (2): 75-9. doi:10.1007/bf01801669. PMID 3939535. S2CID 6335599. Gray RG, Pollitt RJ, ... 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. S2CID 6911924. Human ...
Inborn errors of carbohydrate metabolism, Hepatology, Rare diseases, Diseases of liver). ... A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by an enzyme deficiency ... Loss of cortical neurons underlies the neuropathology of Lafora disease. Mol Brain 2014;7:7 PMC 3917365 Hedberg-Oldfors C, ... GLYCOGEN STORAGE DISEASE IXa1; GSD9A1 OMIM - Online Mendelian Inheritance in Man Definition: glycogen storage disease type VIII ...
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 ...
Liu D, Zhu M, Zhang Y, Diao Y (January 2021). "Crossing the blood-brain barrier with AAV vectors". Metabolic Brain Disease. 36 ... Adachi M (1967). "Studies on Spongy Degeneration of the Central Nervous System (Van Bogaert-Bertrand Type)". Inborn Disorders ... "Aspartoacylase Deficiency (Canavan Disease) , The Online Metabolic and Molecular Bases of Inherited Disease , OMMBID , McGraw- ... Matalon RM, Michals-Matalon K (March 2000). "Spongy degeneration of the brain, Canavan disease: biochemical and molecular ...
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 ...
... 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 ...
Brain Res. Progress in Brain Research. Vol. 181. pp. 177-92. doi:10.1016/S0079-6123(08)81010-2. ISBN 9780444536174. PMID ... 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). " ...
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 ... Inborn errors of metabolism, Autosomal recessive disorders, Rare diseases). ... The disease is caused by defects in the glycine cleavage system, an enzyme responsible for glycine catabolism. There are ...
Journal of Inherited Metabolic Disease. 40 (3): 325-342. doi:10.1007/s10545-017-0029-3. PMC 5391384. PMID 28281081. ... Parris CR (August 2006). "An Overview of Expanded Newborn Screening for Inborn Errors of Metabolism" (PDF). Nutrition Issues in ... brain damage, and ovarian failure. Without treatment, mortality in infants with galactosemia is about 75%.[citation needed] ... There are diseases associated with deficiencies of each of these three enzymes: The only treatment for classic galactosemia is ...
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, ...
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 : ...
... clinical features and treatments of congenital copper metabolic disorders--focus on neurologic aspects". Brain & Development. ... the other 1/3 do not have the disease in their family history. Since the disorder is X-linked recessive the disease affects ... Inborn errors of metal metabolism, Abnormalities of dermal fibrous and elastic tissue). ... The initial diagnosis of Menkes disease (MD) and its milder variants such as Occipital Horn Syndrome is based on the clinical ...
An inborn error of metabolism leading to chronic metabolic acidosis". Arch Dis Child. 42 (225): 492-504. doi:10.1136/adc.42.225 ... 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 ... Combined malonic and methylmalonic aciduria (CMAMMA) Isovaleric acidemia Propionic acidemia Maple syrup urine disease The names ...
In various diseases, such as type II diabetes, metabolic syndrome, and cancer, normal metabolism is disrupted. The metabolism ... Measuring versus elapsed time the net rate of heat flow Inborn errors of metabolism - Class of genetic diseases Iron-sulfur ... vertebrates need to produce ketone bodies from fatty acids to replace glucose in tissues such as the brain that cannot ... As well as the evolution of new metabolic pathways, evolution can also cause the loss of metabolic functions. For example, in ...
"A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital ... Inborn error of metabolism Leukocyte adhesion deficiency PMM2 deficiency Jensen H, Kjaergaard S, Klie F, Moller HU (June 2003 ... Examples are the α-dystroglycanopathies (e.g. POMT1/POMT2-CDG (Walker-Warburg syndrome and Muscle-Eye-Brain syndrome)) with ... Journal of Inherited Metabolic Disease. 16 (5): 813-20. doi:10.1007/bf00714272. PMID 8295395. S2CID 10219089. Jaeken J, ...
Copper in health Folliculitis decalvans Hereditary copper metabolic diseases List of cutaneous conditions List of radiographic ... There can be extensive neurodegeneration in the gray matter of the brain. Arteries in the brain can also be twisted with frayed ... Inborn errors of metal metabolism, Rare diseases, X-linked recessive disorders, Syndromes, Syndromes affecting the nervous ... Even though the disease is more common in males, females can still be a carrier of the disease. As the result of a mutation in ...
This is a higher rate of false positives than the screening tests for many other congenital metabolic diseases.[medical ... Inborn errors of steroid metabolism Congenital adrenal hyperplasia Adrenal insufficiency Disorders of sexual development ... Altered fetal and postnatal exposure to androgens, as well as glucocorticoid therapy, affect brain development and function. ... Since CAH is an autosomal recessive disease, most children with CAH are born to parents unaware of the risk and with no family ...
H2S in the brain is produced from L-cysteine by CBS. This alternative metabolic pathway is also dependent on adoMet. CBS enzyme ... Inborn errors in CBS result in hyperhomocysteinemia with complications in the cardiovascular system leading to early and ... Mutations in this domain are correlated with hereditary diseases. The heme domain contains an N-terminal loop that binds heme ... Allosteric activation of CBS by adoMet determines the metabolic fate of homocysteine. Mammalian CBS is activated 2.5-5-fold by ...
Brain cells need constant oxygen to live, and if the level of blood oxygen remains low enough for long enough, brain damage and ... In adults with coronary artery disease, a severe drop in blood oxygen level can cause angina, arrhythmias, or heart attacks ( ... Poor breathing during sleep a] reduces oxygen available for metabolism and may therefore depress basal metabolic rate during ... is a rare and very severe inborn form of abnormal interruption and reduction in breathing during sleep. This condition involves ...
... are now often referred to as congenital metabolic diseases or inherited metabolic disorders. To ... brain, bone marrow Skin biopsy and fibroblast cultivation for specific enzyme testing Specific DNA testing A 2015 review ... His seminal text, Inborn Errors of Metabolism, was published in 1923. Traditionally the inherited metabolic diseases were ... Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The ...
Dumas L, Sikela JM (2009). "DUF1220 domains, cognitive disease, and human brain evolution". Cold Spring Harb. Symp. Quant. Biol ... Journal of Inherited Metabolic Disease. 29 (2-3): 347-351. doi:10.1007/s10545-006-0269-0. ISSN 0141-8955. PMID 16763900. S2CID ... controlled gestational diabetes Hyperthermia Maternal hypothyroidism Placental insufficiency Craniosynostosis Genetic Inborn ... primarily brain cortical surface area and total brain volume. The spread of Aedes mosquito-borne Zika virus has been implicated ...
Sewell, A. C.; Haskins, M. E.; Giger, U. (2007). "Inherited Metabolic Disease in Companion Animals: Searching for Nature's ... About 250 heritable genetic disorders have been identified in cats, many similar to human inborn errors of metabolism. The high ... High-Resolution Images of the Cat Brain Biodiversity Heritage Library bibliography for Felis catus Catpert. The Cat Expert - ... and chronic diseases such as kidney disease, thyroid disease, and arthritis. Vaccinations are available for many infectious ...
Inborn Metabolic Diseases: Diagnosis and Treatment (5th ed.). New York: Springer. pp. 157-165. ISBN 978-3-642-15719-6. " ... In addition to the liver, fructose is metabolized in the intestines, testis, kidney, skeletal muscle, fat tissue and brain, but ... Although not a consistent finding among metabolic feeding studies, diets high in refined fructose have been shown to lead to ... Douard, V; Ferraris, R. P. (2008). "Regulation of the fructose transporter GLUT5 in health and disease". AJP: Endocrinology and ...
They have postulated that fighting infectious diseases strains the child's metabolism and prevents full brain development. ... the total amount of gray matter in the brain, the overall thickness of the cortex, and the glucose metabolic rate. Health is ... Eugenics is the science which deals with all influences that improve the inborn qualities of a race; also with those that ... particularly if they occur during pregnancy and childhood when the brain is growing and the blood-brain barrier is less ...
... and Inherited metabolic disorder, e.g., Fabry disease. Adult and pediatric manifestations for the same disease may differ; for ... Casanova, Jean-Laurent; Abel, Laurent (2021). "Lethal Infectious Diseases as Inborn Errors of Immunity: Toward a Synthesis of ... Damage to the brain generally does not occur until temperatures reach 42.0 °C (107.6 °F), and it is rare for an untreated fever ... Horton disease, inflammatory bowel diseases, Kawasaki disease, lupus erythematosus, sarcoidosis, and Still's disease;[citation ...
September 1983 The combined supplements 1 and 2 of Journal of Inherited Metabolic Disease Volume 7 (1984), Dordrecht: Springer ... Superti-Furga's research activities have been focused on inborn errors of metabolism, inherited disorders of connective tissue ... "NANS-mediated synthesis of sialic acid is required for brain and skeletal development" (PDF). Nat Genet. 48 (7): 777-84. doi: ... He worked with Francesco Ramirez on genetic diseases in both Zurich and New York. In 2002, he was appointed professor for ...
Journal of Inherited Metabolic Disease. 36 (1): 113-22. doi:10.1007/s10545-012-9504-z. PMC 3674764. PMID 22718275. Shackleton, ... It should also be noted that cholesterol cannot pass the blood-brain barrier, thus within the brain, biosynthesis is the only ... Smith-Lemli-Opitz syndrome is an inborn error of cholesterol synthesis. It is an autosomal recessive, multiple malformation ... These are lipids which take part in signaling within the brain, and must be produced within the brain itself. They are ...
Inborn Metabolic Diseases: Diagnosis and Treatment (5th ed.). New York: Springer. pp. 323-332. ISBN 978-3-642-15719-6. ( ... Research suggests there can be some adverse effect on muscles and also the brain. The cause of this is somewhat unclear but may ... In some cases, affected individuals will present in the neonatal period with disease that closely mimics a classic urea cycle ... Ornithine aminotransferase deficiency (also known as gyrate atrophy of the choroid and retina) is an inborn error of ornithine ...
Of these, 18 have been associated with human disease as inborn errors of metabolism. Furthermore, studies indicate that lipid ... Journal of Inherited Metabolic Disease. 33 (5): 469-77. doi:10.1007/s10545-010-9061-2. PMC 2950079. PMID 20195903. Stahl A ( ... Schönfeld P, Reiser G (October 2013). "Why does brain metabolism not favor burning of fatty acids to provide energy? ... Each enzyme of these metabolic pathways presents structural similarity.[citation needed] There are at least 25 enzymes and ...
A new metabolic disorder associated with neurological disease and mental defect". N. Engl. J. Med. 277 (23): 1219-1227. doi: ... Histidinemia Hyperprolinemia Inborn errors of metabolism Proline Online Mendelian Inheritance in Man (OMIM): 212200 Diseases ... Homocarnosinosis, a neurological disorder resulting in an excess of homocarnosine in the brain, though unaffected by tissue ... Carnosinemia is a rare autosomal recessive metabolic disorder caused by a deficiency of carnosinase, a dipeptidase (a type of ...
Brain. 130 (Pt 5): 1194-205. doi:10.1093/brain/awl371. PMID 17282996. "Optic neuritis". Springer Reference. SpringerReference. ... Disease involvement in this form of leprosy characteristically progresses from cooler regions of the body, such as the tip of ... Metabolic abnormalities and deficiencies in certain vitamin, particularly B vitamins, are associated with inflammatory ... Leprosy presents with a heterogeneous clinical picture dictated by bacterial titer and inborn host resistance. Tuberculoid ...
... is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord. The most ... Another metabolic therapy under investigation for Tay-Sachs disease uses miglustat. This drug is a reversible inhibitor of the ... dominance over nonfunctional mutant alleles in inborn errors of metabolism comes from how enzymes function. Enzymes are protein ... Unlike other lysosomal storage diseases (e.g., Gaucher disease, Niemann-Pick disease, and Sandhoff disease), hepatosplenomegaly ...
Thus, to Barcroft homeostasis was not only organized by the brain-homeostasis served the brain. Homeostasis is an almost ... Many diseases are the result of a homeostatic failure. Almost any homeostatic component can malfunction either as a result of ... The metabolic processes of all organisms can only take place in very specific physical and chemical environments. The ... an inherited defect, an inborn error of metabolism, or an acquired disease. Some homeostatic mechanisms have inbuilt ...
The data differentiates by brain regions and the metabolic changes could be "mapped to existing gene and protein brain atlases ... concentration information on more than 600 different human diseases and pathway data for more than 200 different inborn errors ... In 2021, the first brain metabolome atlas of the mouse brain - and of an animal (a mammal) across different life stages - was ... 2003). Metabolic Profiling: Its Role in Biomarker Discovery and Gene Function Analysis. Boston: Kluwer Academic Publishers. ...
Given the reduced blood glucose level, the brain adapts to using alternative fuels like lactate. These gradual metabolic ... Inborn errors of carbohydrate metabolism). ... Glycogen storage disease type I (GSD I) is an inherited disease ... As with other autosomal recessive diseases, each child born to two carriers of the disease has a 25% chance of inheriting both ... GSD Ib patients often present with inflammatory bowel disease. It is the most common of the glycogen storage diseases. GSD I ...
Less severe cases present with metabolic disease associated with insufficient activity of the coenzyme PLP. The most prominent ... Inborn errors in the salvage enzymes are known to cause inadequate levels of PLP in the cell, particularly in neuronal cells. ... Glycogen serves as a carbohydrate storage molecule, primarily found in muscle, liver and brain. Its breakdown frees up glucose ... As of 2021, there were no published reviews of randomized clinical trials for coronary heart disease or cardiovascular disease ...
In dopaminergic cells in the brain, tyrosine is converted to L-DOPA by the enzyme tyrosine hydroxylase (TH). TH is the rate- ... m-Tyrosine and analogues (rare in nature but available synthetically) have shown application in Parkinson's disease, ... Hormone and Metabolic Research. 30 (4): 188-94. doi:10.1055/s-2007-978864. PMID 9623632. Thomas JR, Lockwood PA, Singh A, ... Journal of Inborn Errors of Metabolism and Screening. 5: 232640981774423. doi:10.1177/2326409817744230. Booth AN, Masri MS, ...
Journal of Inherited Metabolic Disease. May 2015. doi:10.1007/s10545-014-9744-1 Hoffmann et al., ed. "Inherited Metabolic ... 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.[citation needed] The most useful diagnostic tests ... Plasma acylcarnitine levels and urine organic acids exclude some of the important metabolic diseases. When the episodes are ...
Journal of Inherited Metabolic Disease. 39 (4): 559-64. doi:10.1007/s10545-016-9924-2. PMC 4920840. PMID 26973221. Ellis LA, ... Other inborn errors of metabolism include riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency, also known as a ... RFVT2 is highly expressed in brain and salivary glands; and RFVT3 is most highly expressed in the small intestine, testes, and ... Diseases such as cancer, heart disease and diabetes may cause or exacerbate riboflavin deficiency. There are rare genetic ...
Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System Diseases. Nervous System ... Vascular Diseases. Cardiovascular Diseases. Genetic Diseases, X-Linked. Genetic Diseases, Inborn. Metabolism, Inborn Errors. ... Lipid Metabolism, Inborn Errors. Lysosomal Storage Diseases. Metabolic Diseases. Lipid Metabolism Disorders. ... Genetic and Rare Diseases Information Center resources: Fabry Disease Sphingolipidosis U.S. FDA: Expanded Access (Compassionate ...
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) * Niemann-Pick Diseases (National ... Joint manifestations revealing inborn metabolic diseases in adults: a narrative review. * Genetic Brain Disorders -- see more ... Wilson disease. Many people with genetic brain disorders fail to produce enough of certain proteins that influence brain ...
Metabolic Brain Diseases. 1464. Metabolic Brain Diseases, Inborn. 1331. Encephalopathy due to Defective Mitochondrial and ... Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory ... Diseases Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 Developmental Disease Diabetes ... RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically ...
Categories: Brain Diseases, Metabolic, Inborn Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ... The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. ... Centers for Disease Control and Prevention. CDC twenty four seven. Saving Lives, Protecting People ...
Inborn Metabolic Brain Diseases Inborn Metabolic Brain Disorders Inborn Metabolic Disorders, Brain Metabolic Brain Diseases, ... Inborn Metabolic Brain Diseases. Inborn Metabolic Brain Disorders. Inborn Metabolic Disorders, Brain. Inherited Metabolic Brain ... Metabolic Brain Diseases, Familial. Metabolic Brain Diseases, Inborn. Metabolic Brain Diseases, Inherited. Metabolic Brain ... Inborn Metabolic Brain Syndrome, Inborn Metabolic Diseases, Inborn, Brain Central Nervous System Inborn Metabolic Diseases - ...
Brain Diseases, Metabolic, Inborn 1 0 Child Development Disorders, Pervasive 1 0 ... in Genopedia reflects only the indexed disease term without children terms, but the number in the HuGE Literature Finder ... reflects all text searches of the disease term including the indexed term and corresponding children terms. ...
Encephalopathy (/ɛnˌsɛfəˈlɒpəθi/; from Ancient Greek: ἐνκέφαλος "brain" + πάθος "suffering") means any disorder or disease of ... Toxic-metabolic encephalopathy: A catch-all for brain dysfunction caused by infection, organ failure, or intoxication. ... Hyperammonemia: a condition caused by high levels of ammonia, which is due to inborn errors of metabolism (including urea cycle ... Can affect many body systems, particularly the brain and nervous system.. *Acute necrotizing encephalopathy, rare disease that ...
Inborn Metabolic Brain Diseases *Familial Cerebral Amyloid ... Cerebral Amyloid Angiopathy *Familial Cerebral Amyloid ... Metabolic Diseases, Disorders, and Health Challenges , Nutritional and Metabolic Diseases ,, Diseases ,,, Sick Care Systems ... ... Diseases of the peripheral nerves external to the brain and spinal cord, which includes diseases of the nerve roots, ganglia, ... Alzheimer Disease. A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, ...
Metabolic diseases affect various organs including the brain. Accumulation or depletion of substrates frequently leads to brain ... Deficiency of aminopeptidase P1, a cytosolic proline-specific peptidase encoded by the Xpnpep1 gene, causes an inborn error of ... Although accurate intracranial pressure (ICP) monitoring is essential for the diagnosis and treatment of severe brain diseases ... RESULTS: Peripheral vascular disease, liver disease, myocardial infarction, and diabetes in the CCI were selected from the Cox ...
BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.). (From Menkes, Textbook of Child ... The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as ...
Most metabolic disorders are caused by the genetic deficiency of an enzyme that is needed to convert one chemical into another. ... is required to diagnose most metabolic diseases.. Examples, Subsets and Synonyms for Metabolic Disorders -- Inborn Errors of ... both of which damage the developing brain and cause severe intellectual disabilities. Other adverse effects of metabolic ... Although each metabolic disease individually is rare, there are more than 1,300 known metabolic diseases, and collectively they ...
Brain Disorders, Inborn Genetic see Genetic Brain Disorders * Canavan Disease see Leukodystrophies ...
Peptic ulcer disease *Pertussis *Perihepatitis *Peritonitis *Sepsis *Urinary tract infection *Metabolic *Diabetic ketoacidosis ... Pelvic inflammatory disease *Pregnancy *Infections *Appendicitis *Cholecystitis *Encephalitis, meningitis, brain abscess * ... Inborn errors of metabolism *Aminoacidemia *Congenital adrenal hyperplasia *Galactosemia *Hypercalcemia *Organic acidemia *Urea ... Disease: Allergy , Nausea and Vomiting Symptom/Presentation: Vomiting Specialty: Allergy / Pulmonary Diseases , ...
Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > ... Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > ... Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > ... Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Phenylketonurias ... > Nervous System Diseases > ...
Brain Diseases, Metabolic. *Brain Diseases, Metabolic, Inborn. *Hepatic Encephalopathy. *Kernicterus. *Marchiafava-Bignami ... "Marchiafava-Bignami Disease" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... This graph shows the total number of publications written about "Marchiafava-Bignami Disease" by people in this website by year ... Below are the most recent publications written about "Marchiafava-Bignami Disease" by people in Profiles. ...
... and support an evidence-based approach to rare metabolic diseases. In our current -omics world with continuous information flow ... Our systematic literature review identified 81 such inborn errors of metabolism, which present with ID as a prominent feature ... For rare diseases, a field for which financial and scientific resources are particularly scarce, knowledge translation ... The WebAPP translates this knowledge of rare diseases into a diagnostic tool and information portal. Freely available as a ...
Recordati Rare Diseases Foundation Courses *BIMDG ProtocolsProtocols for the management of a variety of inborn errors of ... OF INBORN ERRORS OF METABOLISM. The aim of the society is to foster the study of inherited metabolic disorders and related ... published by the British Inherited Metabolic Diseases Group.. *Société francaise pour létude des erreurs innées du métabolisme ... The Society for Study of Inborn Errors of Metabolism, C/O Stone King LLP, Boundary House, 91 Charterhouse Street,. London, ...
Gastroesophageal reflux disease (GERD). *Constipation. *Obstruction. *Metabolic disorders:*Hypothyroidism. *Inborn errors of ... Traumatic brain injury. *Cerebrovascular disease. *Posterior fossa tumors. *Muscular dystrophies. *Mitochondrial disorders ... Precorrection: Fatigue, respiratory compromise, increased metabolic needs. *Postcorrection: Any or all of the above as well as ... Congenital anomalies, cerebral palsy, prematurity, congenital heart disease (CHD), GERD avoidant/restrictive food intake ...
Endocrine System Diseases, Diagnostic Techniques, Endocrine, Metabolism, Metabolic Diseases, Metabolism, Inborn Errors, ... Brain Injuries, Cardiopulmonary Resuscitation, Shock, "Terapia Intensiva Pediátrica", iaologiaologiaologia, Doença Pulmonar ( ... Nutritional and Metabolic Diseases, Nutrition Disorders, Metabolic Diseases, Nutrition Policy, 52503, Diet, Diet, Diabetic, ... Foot Diseases, Ankle Injuries, Medical Oncology, Communicable Diseases, Communicable Disease Control, 28441, Chronic Disease, ...
Central Nervous System Diseases. Brain Diseases. Brain Diseases, Metabolic. Brain Diseases, Metabolic, Inborn ...
The portal for rare diseases and orphan drugs ... Brains for brain: research group of the European task force on ... NeuroLSD: Neuro-metabolic, structural and functional hallmarks of Lysosomal Storage Diseases - AT Allgemeines Krankenhaus der ... Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism Childrens Hospital of Eastern ... The portal for rare diseases and orphan drugs. COVID-19 & Rare diseases. Rare Diseases Resources for Refugees/Displaced Persons ...
Brain Diseases, Metabolic, Inborn [C10.]. *Lysosomal Storage Diseases, Nervous System [C10.] ... Brain Diseases, Metabolic [C18.452.132]. *Brain Diseases, Metabolic, Inborn [C18.452.132.100]. *Lysosomal Storage Diseases, ... Lysosomal Storage Diseases, Nervous System*Lysosomal Storage Diseases, Nervous System. *Lysosomal Enzyme Disorders, Nervous ... Genetic Diseases, Inborn [C16.320]. *Metabolism, Inborn Errors [C16.320.565]. *Brain Diseases, Metabolic, Inborn [C16.320. ...
In the above example, the second enzyme of the metabolic pathway, "ENZ 2," is the cause of a genetic disease that inhibits the ... Applied to Inborn Errors of Metabolism, the use of an upstream metabolite can be a stressor that leads to hypersensitivity to ... "Dyrk1A Haploinsufficiency Affects Viability and Causes Developmental Delay and Abnormal Brain Morphology in Mice." Molecular ... Rare disease calculate to occur at about 1 per 15 persons. So, for about 1 in 50 (150 million persons), their disease casing ...
... therapies and foods for people with inborn metabolic imbalances. Sunitas efforts have launched MetaKura Foods, which will soon ... Protecting yourself from disease-causing internal inflammation by opting for prebiotics found in artichokes, leeks and onions ... Their impassioned advocacy to elevate the role of nutrition as essential for both physical and brain health is a call to action ... We all fit into one of four metabolic personality types, based on our bodies levels of sensitivity to insulin. Maximize Your ...
Inborn errors of metabolism]] [[Category:Disease]] [[zh:卡尼丁缺乏症]] {{WikiDoc Help Menu}} {{WikiDoc Sources}} Templates used on ... initial signs of this disorder occur during infancy or early childhood and often include brain function abnormalities ==== ... nutritional and metabolic pathology}} [[Category:Genetic disorders]] [[Category:Hepatology]] [[Category: ... Winter was one of the first doctors in the United States to begin treating inborn errors of metabolism with intravenous [[ ...
  • 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. (
  • a condition caused by high levels of ammonia , which is due to inborn errors of metabolism (including urea cycle disorder or multiple carboxylase deficiency ), a diet with excessive levels of protein , deficiencies of specific nutrients such as arginine or biotin , or organ failure. (
  • Genetic metabolic diseases are congenital errors of the body's chemistry that affect the way in which food is assimilated, energy generated and tissue growth enabled. (
  • Congenital lactic acidosis is secondary to inborn errors of metabolism, such as defects in gluconeogenesis, pyruvate dehydrogenase, the tricarboxylic acid (TCA) cycle, or the respiratory chain. (
  • In this blog post, we will focus on models of Inborn Errors of Metabolism (IEM) and describe how these genetic conditions can lead to hypersensitivity to a metabolite. (
  • This study reports on the use of whole exome sequencing (WES) to diagnose children with inborn errors of metabolism and other disorders in United Arab Emirates. (
  • WES confirmed inborn errors of metabolism (five mitochondrial diseases, three lysosomal storage diseases, and six other disorders) in 14 patients and genetic disorders (14 neurological diseases and three non-neurological diseases) in 17 patients. (
  • Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism . (
  • Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic diseases , and these terms are considered synonymous. (
  • His seminal text, Inborn Errors of Metabolism was published in 1923. (
  • 1) Evaluation of the 18-month "Pilot Study of Newborn Screening for Inborn Errors of Metabolism" in Hong Kong. (
  • Inborn errors of metabolism / editors, Jèurgen Schaub, Fran ois Van Hoof, Henri L. Vis. (
  • Genetic brain disorders affect the development and function of the brain. (
  • Some genetic brain disorders are due to random gene mutations or mutations caused by environmental exposure, such as cigarette smoke. (
  • Many people with genetic brain disorders fail to produce enough of certain proteins that influence brain development and function. (
  • These brain disorders can cause serious problems that affect the nervous system. (
  • Most metabolic disorders are caused by the genetic deficiency of an enzyme that is needed to convert one chemical into another. (
  • Other adverse effects of metabolic diseases include seizures, movement disorders, poor growth, muscle weakness, fasting intolerance and disproportionate illness with simple childhood infections or immunizations. (
  • In the case of metabolic disorders, the high degree of sequence conservation in these ancient genes often enable the human gene to rescue the function of the removed ortholog (the animal's version of the disease gene). (
  • In fact, with the control of diarrhea and other infectious illnesses, parasitosis and severe malnutrition ( de Céspedes 1991 ), chronic diseases such as cardiovascular disorders, cancer, congenital malformations, metabolic diseases and psychiatric disorders ( de Céspedes et a l. 1996b ) started to emerge. (
  • Traditionally the inherited metabolic diseases were categorized as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases . (
  • Before diagnosing RS, physicians should rule out any of the approximately 20 metabolic disorders that may mimic RS, particularly in infants and small children (2,9-11). (
  • These genetic disorders include subsets of inherited arrhythmias, cardiomyopathies, vascular diseases and/or structural heart defects with heterogeneous clinical presentations, variable penetrance and expression, making identification of the disease-causing genes challenging. (
  • The screening test offered under the brand is conducted by Cordlife (Hong Kong) Ltd., laboratory committed to providing early and accurate detection of metabolic disorders in newborn babies. (
  • Relief's clinical development program currently focuses on pulmonary diseases and rare genetic, metabolic, and connective tissue disorders, with particular emphasis on conditions with dermatological manifestations. (
  • Εκπόνησε την διδακτορική της διατριβή με θέμα "Studies on the Factors Involved in the Secretion of Enzymic and non-Enzymic Contents of Rat Liver Lysosomes" στο Τμήμα Ενδογενών Μεταβολικών Νοσημάτων (Division of Inherited Metabolic Disorders) του Κλινικού Κέντρου Ερευνών (Clinical Research Centre), Northwick Park Hospital, στο Λονδίνο, Internal Student στο Πανεπιστήμιο. (
  • Lactic acidosis, on the other hand, is associated with major metabolic dysregulation, tissue hypoperfusion, the effects of certain drugs or toxins, and congenital abnormalities in carbohydrate metabolism. (
  • The term inborn error of metabolism was coined by a British physician, Archibald Garrod (1857-1936), in the early 20th century (1908). (
  • A rare disorder of phenylalanine (Phe) metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in non-phenylketonuric offspring of mothers with excess blood Phe concentrations. (
  • An amyloid fibrillar form of these peptides is the major component of amyloid plaques found in individuals with Alzheimer's disease and in aged individuals with trisomy 21 (DOWN SYNDROME). (
  • AIDS-like syndrome: AIDS-like disease (illness) (syndrome) ARC AIDS-related complex Pre-AIDS AIDS-related conditions Prodromal-AIDS 3. (
  • Metabolic disorder caused by dysfunction of mitochondrial DNA. (
  • Medicine sheds light on the UQCRH gene and mitochondrial complex III diseases. (
  • Because of the enormous number of these diseases and wide range of systems affected, nearly every "presenting complaint" to a doctor may have a congenital metabolic disease as a possible cause, especially in childhood. (
  • 5 disease terms (MeSH) has been reported with SLC6A8 gene. (
  • Marchiafava-Bignami Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (
  • Lysosomal Storage Diseases, Nervous System" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (
  • A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. (
  • Canavan disease is a progressive and fatal cerebral degenerative disease that begins in infancy. (
  • Many children do not live past age 10.Although there is currently no cure for Canavan disease, the present treatment involves managing the symptoms. (
  • Centers for Disease Control and Prevention. (
  • The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. (
  • CLASSIFICATION OF DISEASES AND INJURIES I. INFECTIOUS AND PARASITIC DISEASES (001-139) Includes: diseases generally recognized as communicable or transmissible as well as a few diseases of unknown but possibly infectious origin Excludes: acute respiratory infections (460-466) influenza (487. (
  • certain localized infections Note: Categories for "late effects" of infectious and parasitic diseases are to be found at 137. (
  • Although all state newborn screening programs test for metabolic diseases, most states test for fewer than 10 of the more common ones. (
  • Follow-up Testing for Metabolic Diseases Identified by Expanded Newborn Screening Using Tandem Mass Spectrometry. (
  • The clinical observation, mainly starting from early 70s, of a growing number of patients with mental retardation and other disabilities caused by congenital hypothyroidism and hereditary metabolic diseases that could have been prevented in many cases with an early diagnosis and opportune treatment, led us to the decision to implement a systematically massive neonatal screening for these diseases. (
  • With a persistent oxygen debt and overwhelming of the body's buffering abilities (whether from long-term dysfunction or excessive production), hyperlacticaemia and metabolic acidosis ensue, commonly referred to as lactic acidosis. (
  • By the turn of the 20th century, many physicians recognized that patients who are critically ill could exhibit metabolic acidosis unaccompanied by elevation of ketones or other measurable anions. (
  • It also occurs as a result on markedly increased transient metabolic demand (eg, postseizure lactic acidosis). (
  • The development of lactic acidosis depends on the magnitude of hyperlactatemia, the buffering capacity of the body, and the coexistence of other conditions that produce tachypnea and alkalosis (eg, liver disease, sepsis). (
  • Classically, metabolic acidosis is defined as a state of decreased systemic pH resulting from either a primary increase in hydrogen ion (H + ) or a reduction in bicarbonate (HCO 3 - ) concentrations. (
  • The underlying etiology of metabolic acidosis is classically categorized into those causes that result in an elevated anion gap (AG) (see the Anion Gap calculator) and those that do not. (
  • Lactic acidosis (LA), identified by an accumulation of plasma lactate concentration, is one type of anion gap metabolic acidosis and may manifest from numerous conditions. (
  • Lactic acidosis remains the most common cause of metabolic acidosis in hospitalized patients. (
  • The control of infectious and parasitic diseases, as well as of severe malnutrition, has given room to a prevalence of chronic diseases with a pathology profile similar to that of a developed country. (
  • In the above example, the second enzyme of the metabolic pathway, "ENZ 2," is the cause of a genetic disease that inhibits the enzymatic conversion of metabolite 2 into metabolite 3. (
  • Clinical variants disrupting metabolic gene can lead to build up of toxic metabolites (Figure 1). (
  • There are no known Mendelian diseases caused by variants in RABGAP1 yet. (
  • Acute necrotizing encephalopathy , rare disease that occurs following a viral infection. (
  • Reported by: Epidemiology Office, Div of Viral and Rickettsial Diseases, Center for Infectious Diseases, CDC. (
  • Following are some of the major classes of congenital metabolic diseases, with prominent examples of each class. (
  • This phenomenon can be used to create a functional assay where the model system has hypersensitivity to metabolites upstream of the gene's function in a metabolic pathway. (
  • Can affect many body systems, particularly the brain and nervous system. (
  • This graph shows the total number of publications written about "Lysosomal Storage Diseases, Nervous System" by people in this website by year, and whether "Lysosomal Storage Diseases, Nervous System" was a major or minor topic of these publications. (
  • Below are the most recent publications written about "Lysosomal Storage Diseases, Nervous System" by people in Profiles. (
  • This study will evaluate the safety and efficacy of Replagal in patients with Fabry disease who are either naive to treatment, who were previously treated with agalsidase beta, or who had previously received Replagal. (
  • Patients diagnosed with Fabry disease who have not previously received treatment, who have received agalsidase beta, or who had previously received Replagal will be eligible to enroll in the study and will receive Replagal at a dose of 0.2 mg/kg body weight administered by an IV infusion over 40 minutes every other week. (
  • An Open-label Treatment Protocol to Evaluate the Safety of Replagal Treatment in Patients With Fabry Disease. (
  • Confirmed diagnosis of Fabry disease. (
  • In Ireland the state funded immunization program protects against 14 infectious diseases including HPV. (
  • Although each metabolic disease individually is rare, there are more than 1,300 known metabolic diseases, and collectively they represent a significant cause of illness and disability in children. (
  • Monogenic diseases are individually rare but collectively quite common, posing a huge burden on families and society. (
  • Some metabolic diseases become manifest in the first few days of life, whereas others require a stress, such as a fever or fasting during an illness, to become manifest. (
  • A genetic brain disorder is caused by a variation or a mutation in a gene. (
  • Starting with the simple model organisms, a human gene associated with disease can be installed as a gene replacement. (
  • This inherited genetic abnormality is caused by mutations in the gene for an enzyme which causes deterioration of the white matter (myelin) in the brain Symptoms such as mental retardation, lack of head control etc, usually become noticeable at the age of three to nine months old. (
  • RareSource offers rare disease gene variant annotations and links to rare disease gene literature. (
  • Molecular basis of endocrine diseases / editors, Aldo Isidori, Maria I. New, Carlos Pav'ia Sesma. (
  • A collection of diseases all caused by prions, and characterized by "spongy" brain tissue (riddled with holes), impaired locomotion or coordination, and a 100% mortality rate. (
  • A catch-all for brain dysfunction caused by infection, organ failure, or intoxication. (
  • Excessive levels of phenylalanine in the blood results in its accumulation in the brain, which hinders brain development and results in neurophysiological dysfunction. (
  • Metabolic and endocrine physiology : an introductory text / Jay Tepperman. (
  • Monogenic cardio vascular diseases encompass a wide range of phenotypes that result in coronary artery disease, heart failure, aortic dissection and malignant ventricular arrhythmias. (
  • The deficiency of phenylalanine hydroxylase leads to the accumulation of a toxic level of phenylalanine and a deficiency of tyrosine, both of which damage the developing brain and cause severe intellectual disabilities. (
  • The most severe metabolic diseases can be lethal if not treated immediately after birth, while others may cause only very slow injury or lead to a damaging metabolic crisis only once in a lifetime. (
  • WES is especially efficient in detecting rare mutations in autosomal recessive diseases in consanguineous families. (
  • Many rare diseases have limited information. (
  • Although extremely rare, neonatologists must understand the disease because it can be fatal and require emergency treatment after birth. (
  • He sat alone at 7.5 months, develop motor disease without overt crisis was crawling and pulling to stand at 8 and other biochemically affected individu- months and by 10 months he had 1 or 2 als remain asymptomatic [ 3-8 ]. (
  • ἐνκέφαλος "brain" + πάθος "suffering") means any disorder or disease of the brain , especially chronic degenerative conditions. (
  • However, we should go much further in the case of chronic diseases, being that their prevention is much more complex and they require approaches based on new technologies. (
  • Also to this date, 259 children with congenital hypothyroidism, 18 with phenylketonuria, 20 with the maple syrup disease, 30 with congenital adrenal hyperplasia and 10 with galactosemia have been detected, confirmed and treated, for a total of 337 children that were spared of mental retardation, other disabilities and even death. (
  • Macrocephaly was noted at birth, and rocephaly, frontotemporal brain atrophy his head circumference continued to grow and acute encephalopathic episodes char- parallel to the 98th centile. (
  • Children's Brains Grow the Most in the First 5 Years of Life and reach 90% of their Final Size During This Time. (
  • These genetically engineered model systems enable fast and affordable phenotypic screens in whole organism format to enable researchers to find molecules that alleviate the metabolic stress occurring from an IEM deficiency. (
  • The amyloid structure has also been found in a number of functional proteins that are unrelated to disease. (