Brain Diseases, Metabolic, Inborn
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.
Subtype terms (26)
More specific conditions that are subtypes of Brain Diseases, Metabolic, Inborn in the MeSH hierarchy.
- Adrenoleukodystrophy
41 drugs (25 approved, 16 experimental)
- Cerebral Amyloid Angiopathy, Familial
- Galactosemias
4 drugs (3 approved, 1 experimental)
- Hartnup Disease
- Hepatolenticular Degeneration
23 drugs (11 approved, 12 experimental)
- Hereditary Central Nervous System Demyelinating Diseases
- Homocystinuria
7 drugs (3 approved, 4 experimental)
- Hyperglycinemia, Nonketotic
1 drug experimental
- Hyperlysinemias
- Leigh Disease
6 drugs (4 approved, 2 experimental)
- Lesch-Nyhan Syndrome
2 drugs (1 approved, 1 experimental)
- Lysosomal Storage Diseases, Nervous System
- Maple Syrup Urine Disease
1 drug approved
- MELAS Syndrome
13 drugs (5 approved, 8 experimental)
- Menkes Kinky Hair Syndrome
3 drugs (1 approved, 2 experimental)
- MERRF Syndrome
- Mevalonate Kinase Deficiency
1 drug approved
- Oculocerebrorenal Syndrome
- Phenylketonurias
29 drugs (7 approved, 22 experimental)
- Pyruvate Carboxylase Deficiency Disease
2 drugs (1 approved, 1 experimental)
- Pyruvate Dehydrogenase Complex Deficiency Disease
4 drugs (3 approved, 1 experimental)
- Refsum Disease
- Refsum Disease, Infantile
6 drugs (5 approved, 1 experimental)
- Tyrosinemias
1 drug approved
- Urea Cycle Disorders, Inborn
17 drugs (9 approved, 8 experimental)
- Zellweger Syndrome
7 drugs (6 approved, 1 experimental)
Drugs by status
Phase 1 trials (1)
Organizations
Organization Involved with Phase 1 Indications (2)