Amino Acid Metabolism, Inborn Errors D000592

Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Amino Acid Metabolism, Inborn Errors

Description

Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.   MeSH

Subtype Terms (13)

Albinism
6 drugs (4 approved, 2 experimental)

Alkaptonuria
1 approved drug

Hyperglycinemia, Nonketotic
1 experimental drug

Hyperhomocysteinemia
16 drugs (9 approved, 7 experimental)

Hyperlysinemias
 

Propionic Acidemia
13 drugs (4 approved, 9 experimental)

Tyrosinemias
1 approved drug

Urea Cycle Disorders, Inborn
16 drugs (9 approved, 7 experimental)


Phase 1 Indicated Drugs (1)


Organization Involved with Phase 3 Indications (1)

Organization Involved with Phase 1 Indications (1)

Organization Involved with Other Experimental Indications (2)

Hierarchy Tree View

UMLS Data


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