Mesh term Brain Diseases, Metabolic, Inborn
Browse to parent terms:Brain Diseases, Metabolic
Metabolism, Inborn Errors
Description
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.Browse to child terms:
Adrenoleukodystrophy
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
MELAS Syndrome
MERRF Syndrome
Maple Syrup Urine Disease
Menkes Kinky Hair 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
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