Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Amino Acid Metabolism, Inborn Errors
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
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Subtype Terms (13)
Albinism
6 drugs (4 approved, 2 experimental)
Alkaptonuria
1 approved drug
Hyperglycinemia, Nonketotic
1 experimental drug
Hyperhomocysteinemia
17 drugs (10 approved, 7 experimental)
Maple Syrup Urine Disease
1 approved drug
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
1 experimental drug
Multiple Carboxylase Deficiency
Phenylketonurias
27 drugs (5 approved, 22 experimental)
Propionic Acidemia
14 drugs (4 approved, 10 experimental)
Tyrosinemias
1 approved drug
Urea Cycle Disorders, Inborn
16 drugs (9 approved, 7 experimental)
Phase 2 Indicated Drugs (5)
Phase 1 Indicated Drugs (1)
Organization Involved with Phase 3 Indications (1)
Organization Involved with Phase 2 Indications (15)
Organization Involved with Phase 1 Indications (1)
Organization Involved with Other Experimental Indications (2)
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UMLS Data
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