Brain Diseases, Metabolic, Inborn D020739

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] » 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
37 drugs (23 approved, 14 experimental)

Cerebral Amyloid Angiopathy, Familial
 

Galactosemias
4 drugs (3 approved, 1 experimental)

Hartnup Disease
 

Hepatolenticular Degeneration
21 drugs (10 approved, 11 experimental)

Hereditary Central Nervous System Demyelinating Diseases
 

Homocystinuria
5 drugs (3 approved, 2 experimental)

Hyperglycinemia, Nonketotic
1 experimental drug

Hyperlysinemias
 

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
12 drugs (5 approved, 7 experimental)

Menkes Kinky Hair Syndrome
3 drugs (1 approved, 2 experimental)

MERRF Syndrome
 

Mevalonate Kinase Deficiency
1 approved drug

Oculocerebrorenal Syndrome
 

Phenylketonurias
20 drugs (5 approved, 15 experimental)

Pyruvate Carboxylase Deficiency Disease
1 approved drug

Pyruvate Dehydrogenase Complex Deficiency Disease
2 drugs (1 approved, 1 experimental)

Refsum Disease
 

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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