Concept information
Término preferido
Brain Diseases, Metabolic, Inborn
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Tipo
-
mesh:Descriptor
Definición
- 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.
Concepto genérico
Conceptos específicos
- 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
Etiquetas alternativas
- 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
En otras lenguas
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francés
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Erreurs innées du métabolisme cérébral
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Maladies métaboliques congénitales du cerveau
URI
http://data.loterre.fr/ark:/67375/JVR-NZNP9637-N
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