Genetic metabolic disorders. Medical search. Frequent questions

Hereditary hemochromatosis (HH) owing to the mutation in an old Celtic gene, Hfe (an atypical MHC class I molecule), is the most prevalent genetic iron overload disorder in the Western countries. (uni-ulm.de)
Polyglandular deficiency syndromes are hereditary disorders in which several endocrine (hormone-producing) glands malfunction. (msdmanuals.com)
Chronic Mucocutaneous Candidiasis Chronic mucocutaneous candidiasis, a hereditary immunodeficiency disorder, is persistent or recurring infection with Candida (a fungus) due to malfunction of T cells (a type of white. (msdmanuals.com)
Orfadin (nitisinone) is a hydroxyphenyl- pyruvate dioxygenase inhibitor used to treat a rare genetic condition called hereditary tyrosinemia type 1 ( HT -1). (rxlist.com)
Metabolic myopathies refer to a group of hereditary muscle disorders caused by specific enzymatic defects due to defective genes. (medscape.com)
Genetic testing for hereditary cancer syndromes: patient recommendations for improved risk communication. (cdc.gov)

Several factors contribute to its development, such as auto-immunological, genetic, hormonal and psychosomatic issues [ 6 ]. (springer.com)
Most metabolic, hormonal, and genetic disorders are diagnosed using dry blood spot tests. (marketsandmarkets.com)
May be genetic, hormonal, or drug induced. (medscape.com)

Biochemical genetic testing and newborn screening are essential laboratory services for the screening, detection, diagnosis, and monitoring of inborn errors of metabolism or inherited metabolic disorders. (cdc.gov)
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. (wikipedia.org)
Most recognized metabolic myopathies are considered primary inborn errors of metabolism and are associated with known or postulated enzymatic defects that affect the ability of muscle fibers to maintain adequate energy and adenosine triphosphate (ATP) concentrations. (medscape.com)

ABSTRACT This study aimed to assess the prevalence, components and correlates of metabolic syndrome (MetS) in adults in pre-crisis Aleppo, Syrian Arab Republic. (who.int)
RÉSUMÉ La présente étude avait pour objectif d'évaluer la prévalence, les composantes et les corrélats du syndrome métabolique chez l'adulte à Alep avant la crise, en République arabe syrienne. (who.int)
They also found overlap between anorexia nervosa and obsessive-compulsive disorder (OCD), as well as between OCD and Tourette syndrome. (medscape.com)
In contrast, neurologic disorders, such as Alzheimer's disease, Parkinson's disease, and multiple sclerosis, appear more distinct from one another and from the psychiatric disorders, except for migraine, for which there was a significant genetic link to ADHD, MDD, and Tourette syndrome. (medscape.com)
In almost all cases when infantile spasms syndrome is found to be caused by a genetic mutation, it has occurred spontaneously (de novo) and was not inherited from either parent. (chop.edu)
Genetic testing , including epilepsy panel testing or whole exome sequencing, to look for specific genetic causes of infantile spasms syndrome. (chop.edu)
Genetic testing is able to identify a positive genetic diagnosis in up to 40% of children with infantile spasms syndrome. (chop.edu)
Kids with Down syndrome , autism , and some metabolic disorders also may have epilepsy. (kidshealth.org)
CHARGE is a congenital disorder and an acronym for the constellation of medical problems that define this syndrome: coloboma of the eye, heart defects, atresia of the choanae, retardation of growth or development, genital hypoplasia, and ear malformation. (abainternational.org)
This rare disorder is clinically similar to Dubin-Johnson syndrome, but the liver is not pigmented, and other subtle metabolic differences are present. (merckmanuals.com)
Overview of Malabsorption Malabsorption syndrome refers to a number of disorders in which nutrients from food are not absorbed properly in the small intestine. (msdmanuals.com)

As the number of inherited metabolic diseases that are included in state-based newborn screening programs continues to increase, ensuring the quality of performance and delivery of testing services remains a continuous challenge not only for public health laboratories and other newborn screening facilities but also for biochemical genetic testing laboratories. (cdc.gov)
The recommended practices address the benefits of using a quality management system approach, factors to consider before introducing new tests, establishment and verification of test performance specifications, the total laboratory testing process (which consists of the preanalytic, analytic, and postanalytic phases), confidentiality of patient information and test results, and personnel qualifications and responsibilities for laboratory testing for inherited metabolic diseases. (cdc.gov)
With our new approach we have finally solved our mystery cases, and we now expect to find the genetic cause of other, as of yet unexplained, genetic metabolic diseases. (technologynetworks.com)
For kids with rare diseases and their families, finding the root causes of their disorders is tremendously important," said Dr. Wyeth Wasserman, a co-author of the study. (technologynetworks.com)
Genetic (inherited) storage diseases are named according to the specific metabolic byproduct that builds up in the body. (merckvetmanual.com)
The difference between production-related metabolic diseases and nutritional deficiencies is often subtle. (merckvetmanual.com)
We were surprised that genetic factors of some neurological diseases normally associated with the elderly were negatively linked to genetic factors affecting early cognitive measures. (medscape.com)
Without treatment, their presentation ranges from mild disorders to acute life-threatening diseases. (nsu.govt.nz)
A few examples of metabolic disorders include galactosemia, glycogen storage diseases, fatty acid oxidation disorders (e.g. (luriechildrens.org)
Provides assessment, diagnosis and counselling, as well as screening and management recommendations, to Albertans across their lifespan (pre-conception, newborn, pediatric and adult) affected, or at risk for an inherited genetic condition(s), birth defects and rare diseases. (albertahealthservices.ca)
Metabolic myopathies are important disorders since they mimic other more commonly encountered neurologic diseases. (medscape.com)

This indicates that rather than being caused by genetic mutations, breast cancer develops when cells borrow mutated pathways as a result of limits in their nutrient supply. (cancermyths.com)
Infantile spasms can also be caused by genetic mutations or metabolic disorders. (chop.edu)

Laboratories that perform biochemical genetic testing are required by CLIA regulations to meet the general quality systems requirements for nonwaived testing and the personnel requirements for high-complexity testing. (cdc.gov)
These recommendations are intended for laboratories that perform biochemical genetic testing to improve the quality of laboratory services and for newborn screening laboratories to ensure the quality of laboratory practices for inherited metabolic disorders. (cdc.gov)
These recommendations also are intended as a resource for medical and public health professionals who evaluate laboratory practices, for users of laboratory services to facilitate their collaboration with newborn screening systems and use of biochemical genetic tests, and for standard-setting organizations and professional societies in developing future laboratory quality standards and practice recommendations. (cdc.gov)
Biochemical Genetic Emergencies. (wikipedia.org)
A metabolic disorder is any disease or disorder that negatively affects the biochemical reactions through which individual animal cells process nutrient molecules (such as the components of carbohydrates , proteins , and fats ) to yield energy or perform the functions necessary to sustain life (such as building complex molecules and creating cellular structure). (newworldencyclopedia.org)
All biochemical processes in all organisms are under genetic control. (newworldencyclopedia.org)
Metabolic myopathies are the most clearly defined and etiologically understood muscle disorders because their fundamental biochemical defects are known through recent developments in molecular biology and biochemistry. (medscape.com)
The pathophysiological principles of metabolic myopathies may be simplified into a logical biochemical cascade. (medscape.com)

Autoimmune Disorders An autoimmune disorder is a malfunction of the body's immune system that causes the body to attack its own tissues. (msdmanuals.com)
What triggers an autoimmune disorder is not known. (msdmanuals.com)

They were able with 95 percent accuracy to identify a specific metabolic signature in the cancer patients. (cancermyths.com)
The diagnosis depends on a high index of suspicion and involves correlating certain clinical manifestations to specific metabolic defects. (medscape.com)

These include attention-deficit/hyperactivity disorder (ADHD), bipolar disorder, major depressive disorder (MDD), and schizophrenia. (medscape.com)
They found significant genetic overlap across different types of psychiatric disorders, particularly between ADHD, bipolar disorder, MDD, and schizophrenia. (medscape.com)
Within the cognitive phenotypes, genetic factors that predispose individuals to certain psychiatric disorders - namely, anorexia, autism, bipolar disorder, and OCD - correlated significantly with factors associated with higher childhood cognitive measures, including more years of education and attending college. (medscape.com)

The gene identified as the cause of this particular disorder is an enzyme that enables the body to turn an amino acid called glutamine into glutamate. (technologynetworks.com)
Whenever the function of an enzyme is affected, a metabolic disorder can develop. (merckvetmanual.com)
Metabolic storage disorders usually result from the body's inability to break down some substance because of partial or complete lack of a certain enzyme. (merckvetmanual.com)
An error in any of the genetic instructions can lead to an enzyme that does not work, or to no enzyme being made at all. (luriechildrens.org)
Problems with just one enzyme in a pathway can lead to a metabolic disorder. (luriechildrens.org)
This rare inherited liver disorder is caused by deficiency of the enzyme glucuronyl transferase (UGT1A1), which catalyzes the conjugation of bilirubin (mainly to bilirubin diglucuronide) to render bilirubin water soluble. (merckmanuals.com)
Metabolic disorders typically result when an enzyme necessary for some step in a metabolic process is missing or improperly constructed due to a genetic defect. (newworldencyclopedia.org)
This complex coordination can be disrupted through a genetic defect in an enzyme. (newworldencyclopedia.org)
HT-1 is a metabolic disorder that occurs when the body does not produce enough of an enzyme that breaks down proteins from certain foods. (rxlist.com)
In certain metabolic disorders ( ADA and PNP deficiency) enzyme substitution therapy can be applied. (lu.se)

For more information visit the Clinical & Metabolic Genetics website . (albertahealthservices.ca)

Wapner RJ, Dugoff L. Prenatal diagnosis of congenital disorders. (medlineplus.gov)
The rate of undetectable genetic causes by Cell-free DNA test in congenital heart defects. (cdc.gov)
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging. (cdc.gov)

Using cutting edge genetic technologies, we have discovered a number of disease genes for rare genetic disorders, some of which are world firsts, some of which led to institution of specific therapies, and all of which have improved our understanding of the genetic risks to other family members. (kidsresearch.org.au)
While it is true that scientists have identified mutations of certain genes like the BRCA1 and BRCA2 genes which seem to predispose certain women to breast, ovarian and other cancers, a groundbreaking new study published in the journal Oncotarget recently found that breast cancer is primarily a metabolic disorder, not a genetic disease. (cancermyths.com)

Neurologic disorders, such as Parkinson's disease and Alzheimer's disease, appear more distinct from each other. (medscape.com)
The researchers quantified genetic overlap across 25 psychiatric and neurologic disorders from genome-wide association studies (GWAS) of 265,218 patients and 784,643 control persons and assessed the relationship of those disorders to physical and cognitive phenotypes from nearly 1.2 million individuals. (medscape.com)
Both psychiatric and neurologic disorders showed robust correlations with cognitive and personality phenotypes. (medscape.com)
However, neurologic disorders, particularly Alzheimer's disease and stroke, showed a negative correlation with these cognitive measures. (medscape.com)
A number of genetic, metabolic, and neurologic disorders are associated with recognizable scalp hair abnormalities. (medscape.com)
Clinical inspection of scalp hair characteristics can provide important clues to aid the early identification of genetic, metabolic, and neurologic disorders. (medscape.com)

John Christodoulou AM FAHMS is an Australian medical geneticist, genetic pathologist and clinical scientist. (wikipedia.org)
The high degree of genetic correlation among the psychiatric disorders suggests that current clinical categories do not accurately reflect the underlying biology, which may play a role in, for example, the difficulties psychiatry has had in developing new treatments. (medscape.com)
It is the position of ASHA that apraxia of speech exists as a distinct diagnostic type of childhood (pediatric) speech sound disorder that warrants research and clinical services. (asha.org)
Nearly every metabolic disorder has several forms, which vary in age of onset, clinical severity and mode of inheritance. (nsu.govt.nz)
In 2015 new evidence was assessed and it was agreed by clinical experts and the NSU that a group of rare disorders (carboxylase deficiencies) should no longer be screened for. (nsu.govt.nz)
Some neurological and genetic disorders have as a defining clinical feature the presence of severe problem behavior, such as self-injurious tongue biting associated with Lesch-Nyhan. (abainternational.org)
An appointment is with a clinical geneticist and/or genetic counsellor, depending on the reason for referral. (albertahealthservices.ca)
Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders. (cdc.gov)

Robert Nagourney, M.D., the study's lead author, explained, "This suggests that cancer is not a genetic disease arising solely from mutations as we have all been taught, but instead a metabolic condition that develops under the stress of cellular nutrient deprivation. (cancermyths.com)
But this is changing as more genetic mutations are found. (kidshealth.org)

Neurological disorders showed a more limited extent of genetic correlation than that of the psychiatric disorders, suggesting greater diagnostic specificity and/or more distinct etiologies," the authors write. (medscape.com)
This study is the first to look at genetic correlations for neurological disorders, and consequently also the first one to compare psychiatric and neurological disorders," Anttila told Medscape Medical News . (medscape.com)
Third, apraxia of speech not associated with any known neurological or complex neurobehavioral disorder occurs as an idiopathic neurogenic speech sound disorder . (asha.org)
Childhood apraxia of speech (CAS) is a neurological childhood (pediatric) speech sound disorder in which the precision and consistency of movements underlying speech are impaired in the absence of neuromuscular deficits (e.g., abnormal reflexes, abnormal tone). (asha.org)
CAS may occur as a result of known neurological impairment, in association with complex neurobehavioral disorders of known or unknown origin, or as an idiopathic neurogenic speech sound disorder. (asha.org)
Neurological and genetic disorders are often characterized not only by their genotype and phenotype, but also by the presence of overt behaviors. (abainternational.org)

In this important study, researchers found an unusual genetic mutation behind three children's undiagnosed, degenerative conditions: a repeat expansion of DNA. (technologynetworks.com)
Degenerative disorders of the newborn. (medlineplus.gov)
ἐνκέφαλος "brain" + πάθος "suffering") means any disorder or disease of the brain , especially chronic degenerative conditions. (wikipedia.org)
In this work we proposed to study the role of genetic polymorphism of the eNOS G894T gene in the development of diabetes on the one hand and of these degenerative complications other. (scirp.org)
and the use and implementation of assistive technology as it relates to genetic, metabolic and degenerative brain disorders. (jhu.edu)

Journal of Autism and Other Developmental Disorders, 39(11) , 1582-1586. (kennedykrieger.org)
2012). Occurrence and family impact of elopement in children with autism spectrum disorders . (kennedykrieger.org)

Genetic data in mice and patients demonstrated that a relative deficiency of iron-hormone hepcidin underlies Hfe-HH disorders. (uni-ulm.de)
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency), amino acid disorders (e.g. (luriechildrens.org)
Additionally, the presence of an abnormal allele in some patients, such as with myoadenylate deaminase deficiency, may not result in a specific muscular disorder. (medscape.com)
Carnitine palmitoyl transferase deficiency is the most commonly identified metabolic cause of recurrent myoglobulinemia in adults and has been reported in more than 150 patients. (medscape.com)
[ 3 ] Hair color can also signal a metabolic disorder or nutritional deficiency. (medscape.com)
1) Antibody deficiency disorders are defects in immunoglobulin-producing B cells . (lu.se)
The incidence of PIDs varies greatly from about 1:500 births with selective IgA deficiency to only a few known cases for the rarest disorders. (lu.se)

Metabolic myopathies are heterogeneous conditions that have common abnormalities of muscle energy metabolism that result in skeletal muscle dysfunction. (medscape.com)
[ 1 3 ] A number of autosomal dominant, autosomal recessive, and X-linked single gene disorders are characterized by hair abnormalities. (medscape.com)

Metabolic disorders are a group of genetic disorders that affect the body's metabolism. (luriechildrens.org)
Hepatocytes (liver parenchymal cells) perform the liver's metabolic functions: Formation and excretion of bile as a component of bilirubin metabolism. (merckmanuals.com)
These metabolism booster supplements can help you with your weight loss journey and improve your metabolic health. (gazette-tribune.com)
Finally, understanding these muscle disorders enables a better understanding of the dynamics of muscle and body metabolism. (medscape.com)
Understanding energy metabolism in exercising muscles is a prerequisite to the study of metabolic myopathies. (medscape.com)

Menezes MJ, Riley LG , Christodoulou J . (2014) Mitochondrial respiratory chain disorders in childhood: insights into diagnosis and management in the new era of genomic medicine. (kidsresearch.org.au)
Metabolic disorder caused by dysfunction of mitochondrial DNA. (wikipedia.org)

More work is needed to determine how exactly this genetic error leads to disease, but it's likely that either a build-up of glutamine or the lack of glutamate caused the children's serious developmental delays and disabilities including difficulty with language, speech, balance and coordination. (technologynetworks.com)
This indicates that breast cancer patients experience metabolic changes which "predispose" them to developing the disease. (cancermyths.com)
Genetic counseling is recommended for people who want to have children and have a family history of Canavan disease. (medlineplus.gov)
This technique produced new metabolic biomarkers for following disease progression but also demonstrated that many metabolic pathways are perturbed in dystrophic tissue. (ox.ac.uk)
Disorders of striated muscle, liver disorders of pregnancy, and uncommon reasons for abnormal live tests, such as Lyme disease, are also included. (medscape.com)
Indeed, nowadays psoriasis is considered a systemic pathology, including also other conditions, from psoriatic arthritis to obesity and metabolic disease (MetS), which increased cardiovascular risk in psoriatic patients [ 2 - 4 ]. (springer.com)
Video: Determinants of Alzheimer Disease -- Is Our Destiny Genetic? (psychiatrictimes.com)
As an autosomal recessive disorder, maple syrup urine disease is more prevalent in populations with a high occurrence of consanguinity. (medscape.com)
Phenylketonuria (PKU) , Maple syrup urine disease) and urea cycle disorders. (luriechildrens.org)
Current research interests: I am committed to developing a new type of treatment for Pompe disease, which is a rare lysosomal storage disorder. (erasmusmc.nl)
Late onset of a metabolic disease is often triggered by acute metabolic stresses, such as infection, fasting, or consumption of a nutrient for which a metabolic intolerance exists. (newworldencyclopedia.org)

This rare autosomal recessive disorder involves impaired excretion of bilirubin glucuronides. (merckmanuals.com)

Also, many of the genetic defects have been characterized, and genetic counseling is now possible. (medscape.com)

To develop, test and disseminate new behavioral and technological solutions to the problems of obesity, poor diet, sedentariness and disordered eating. (drexel.edu)

it is typically administered to families who are in a defined ethnic group in which the disorder has a relatively high incidence. (newworldencyclopedia.org)
The exact incidence and prevalence of metabolic myopathies is uncertain. (medscape.com)

Effective treatment can slow or stop damaging symptoms, improving the quality of life of children with rare disorders and their families. (technologynetworks.com)
The disorder causes high levels of L2HGA which in turn result in neuromuscular symptoms such as seizures starting a young age. (vetgen.com)
People from birth through adulthood may show signs and symptoms that reflect an underlying metabolic disorder. (luriechildrens.org)
Given the number of metabolic disorders and the range of systems affected, these disorders are manifested in a wide array of symptoms of varying severity, ranging from recurrent vomiting, lethargy, and muscle weakness, to liver and heart failure, developmental delay, and mental retardation. (newworldencyclopedia.org)
Even within the same disorder, symptoms may vary, depending on the age of onset and other factors. (newworldencyclopedia.org)

He added, "Cells that cannot generate enough energy due to lack of oxygen, sugars or proteins, common to many cancers, use altered metabolic pathways to ensure their survival. (cancermyths.com)
Metabolic disorders are rare inherited disorders in which pathways that produce certain biochemicals malfunction. (nsu.govt.nz)

Some metabolic disorders are caused by an increased demand for a specific element or nutrient that has become deficient under certain conditions. (merckvetmanual.com)
Uncovering the genetic influences and patterns of overlap between different genetic risk factors allows us to better understand the root causes of these conditions and potentially identify specific mechanisms appropriate for tailored treatments," first author Verneri Anttila, PhD, research fellow at the Broad Institute of the Massachusetts Institute of Techology and Harvard University, in Cambridge, told Medscape Medical News . (medscape.com)
Some metabolic disorders, genetic conditions, and dietary choices might contribute to their development. (vox.com)
This service is available to individuals who are affected or at moderate to high risk for inherited genetic conditions. (albertahealthservices.ca)
Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions. (cdc.gov)

Most metabolic disorders are inherited from one or both parents who carry a defective gene that regulates a particular protein in a class of the body's cells. (newworldencyclopedia.org)

Certain metabolic substrates rely on different transporters to enter the mitochondria and different dehydrogenases to produce NAD(P)H or FADH2. (biolog.com)

CAS is preferred over alternative terms for this disorder, including developmental apraxia of speech and developmental verbal dyspraxia , which have typically been used to refer only to the idiopathic presentation. (asha.org)

Metabolic storage disorders can be either genetic or acquired. (merckvetmanual.com)

Salmonella encephalopathy: A form of encephalopathy caused by food poisoning (especially out of peanuts and rotten meat) often resulting in permanent brain damage and nervous system disorders. (wikipedia.org)

Adrenal insufficiency may be caused by a disorder of the adrenal glands, a disorder of the pituitary gland. (msdmanuals.com)

Foods, liquids, and drugs all generally undergo metabolic processes within the body. (merckvetmanual.com)
Enzymes made by the body are needed for many metabolic processes to occur. (merckvetmanual.com)
Each disorder is caused by a different genetic condition and affects different processes in the body. (nsu.govt.nz)
The immune system consists of a large number of molecules and processes, and immunodeficiencies can therefore be caused by genetic alterations at many loci. (lu.se)

Sensory polyneuropathies, which are caused by dysfunction of peripheral sensory nerve fibers, are a heterogeneous group of disorders that range from the common diabetic neuropathy to the rare sensory neuronopathies. (bmj.com)

For example, in hypoglycemia , the animal's metabolic reserves are unable to sustain sugar (or glucose) in the blood at a level needed for normal function. (merckvetmanual.com)

A new study from BC Children's Hospital, the University of British Columbia (UBC) and an international team of researchers published in the New England Journal of Medicine is the first to identify a rarely-seen type of DNA mutation as the cause of an inherited metabolic disorder. (technologynetworks.com)

Finally, the guidelines emphasize using the term "liver chemistry tests" or "liver tests," rather than "liver function tests," because the tests normally included in basic metabolic panels are indirect, not direct, markers of liver function. (medscape.com)
Evaluation of the Patient With a Liver Disorder History and physical examination often suggest a cause of potential liver disorders and narrow the scope of testing for hepatic and biliary disorders. (merckmanuals.com)

Inherited metabolic disorders -- where the body can't break down specific nutrients from food leading to a range of serious health problems -- are often caused by a defective gene. (technologynetworks.com)

Genetic factors and environmental triggers (such as viral infections, dietary factors, or certain medications) may be involved. (msdmanuals.com)

Review of the research literature indicates that, at present, there is no validated list of diagnostic features of CAS that differentiates this symptom complex from other types of childhood speech sound disorders, including those primarily due to phonological-level delay or neuromuscular disorder (dysarthria). (asha.org)

Diabetes Mellitus (DM) Diabetes mellitus is a disorder in which the body does not produce enough or respond normally to insulin, causing blood sugar (glucose) levels to be abnormally high. (msdmanuals.com)

The new study finds that cancer is a metabolic disorder which challenges decades of genomic research. (12160.info)
Systematic development of a training program for healthcare professionals to improve communication about breast cancer genetic counseling with low health literate patients. (cdc.gov)

In this study, initial work by van Karnebeek and her research team narrowed the search for the genetic causes of this rare disorder to key areas of the genome. (technologynetworks.com)
Achondroplasia is a group of rare genetic (inherited) bone disorders. (uhhospitals.org)
Metabolic disorders are rare and are usually inherited from one or both parents. (nsu.govt.nz)
Metabolic myopathies are rare but potentially treatable disorders. (medscape.com)
Most PIDs are relatively rare disorders. (lu.se)

We might use imaging tests to determine if your child has a central nervous system disorder. (childrens.com)

Second, apraxia of speech occurs as a primary or secondary sign in children with complex neurobehavioral disorders (e.g., genetic, metabolic). (asha.org)

Anatomy20

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