Concept information
Preferred term
Brain Diseases, Metabolic, Inborn
Type
-
Topical Descriptor
Broader concept
Narrower concepts
- Cerebral Amyloid Angiopathy, Familial
- Galactosemias
- Hartnup Disease
- Hepatolenticular Degeneration
- Hereditary Central Nervous System Demyelinating Diseases
- Homocystinuria
- Hyperglycinemia, Nonketotic
- Hyperlysinemias
- Leigh Disease
- Lesch-Nyhan Syndrome
- Lysosomal Storage Diseases, Nervous System
- Maple Syrup Urine Disease
- MELAS Syndrome
- Menkes Kinky Hair Syndrome
- MERRF Syndrome
- Mevalonate Kinase Deficiency
- Oculocerebrorenal Syndrome
- Phenylketonurias
- Pyruvate Carboxylase Deficiency Disease
- Pyruvate Dehydrogenase Complex Deficiency Disease
- Refsum Disease
- Refsum Disease, Infantile
- Tyrosinemias
- Urea Cycle Disorders, Inborn
- Zellweger Syndrome
Entry terms
- Brain Syndrome, Metabolic, Inborn
- Encephalopathies, Metabolic, Inborn
- Inborn Errors of Metabolism, Brain
- Inborn Metabolic Brain Diseases
- Inborn Metabolic Brain Disorders
- Inborn Metabolic Disorders, Brain
- Metabolic Brain Diseases, Inborn
- Metabolic Brain Syndrome, Inborn
- Metabolic Diseases, Inborn, Brain
Note
- general or unspecified, prefer specifics
Scope note
- 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.
History note
- 2000
In other languages
-
Finnish
-
synnynnäiset aivojen aineenvaihduntasairaudet
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synnynnäiset aivojen aineenvaihduntataudit
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synnynnäiset keskushermoston aineenvaihduntasairaudet
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synnynnäiset keskushermoston aineenvaihduntataudit
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synnynnäiset metaboliset aivotaudit
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synnynnäiset metaboliset enkefalopatiat
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synnynnäiset metaboliset keskushermostosairaudet
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synnynnäiset metaboliset keskushermostotaudit
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Swedish
URI
http://www.yso.fi/onto/mesh/D020739
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