Related MeSH Hierarchy (4)
Diseases [C] » Nervous System Diseases [C10] » Central Nervous System Diseases » Brain Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn
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. MeSH
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Subtype Terms (26)
Adrenoleukodystrophy
40 drugs (24 approved, 16 experimental)
Cerebral Amyloid Angiopathy, Familial
Galactosemias
4 drugs (3 approved, 1 experimental)
Hepatolenticular Degeneration
18 drugs (10 approved, 8 experimental)
Hereditary Central Nervous System Demyelinating Diseases
Homocystinuria
6 drugs (3 approved, 3 experimental)
Hyperglycinemia, Nonketotic
1 experimental drug
Leigh Disease
3 drugs (1 approved, 2 experimental)
Lesch-Nyhan Syndrome
2 drugs (1 approved, 1 experimental)
Lysosomal Storage Diseases, Nervous System
Maple Syrup Urine Disease
1 approved drug
MELAS Syndrome
11 drugs (5 approved, 6 experimental)
Menkes Kinky Hair Syndrome
3 drugs (1 approved, 2 experimental)
Mevalonate Kinase Deficiency
1 approved drug
Phenylketonurias
27 drugs (5 approved, 22 experimental)
Pyruvate Carboxylase Deficiency Disease
2 drugs (1 approved, 1 experimental)
Pyruvate Dehydrogenase Complex Deficiency Disease
2 drugs (1 approved, 1 experimental)
Refsum Disease, Infantile
6 drugs (5 approved, 1 experimental)
Tyrosinemias
1 approved drug
Urea Cycle Disorders, Inborn
16 drugs (9 approved, 7 experimental)
Zellweger Syndrome
7 drugs (6 approved, 1 experimental)
Phase 1 Indicated Drugs (1)
Organization Involved with Phase 1 Indications (2)
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UMLS Data
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