Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors
Description
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. MeSH
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Subtype Terms (15)
Amino Acid Metabolism, Inborn Errors
6 drugs (4 approved, 2 experimental)
Amino Acid Transport Disorders, Inborn
Amyloidosis, Familial
10 drugs (8 approved, 2 experimental)
Brain Diseases, Metabolic, Inborn
1 experimental drug
Carbohydrate Metabolism, Inborn Errors
2 drugs (1 approved, 1 experimental)
Cytochrome-c Oxidase Deficiency
Hyperbilirubinemia, Hereditary
Lipid Metabolism, Inborn Errors
6 drugs (2 approved, 4 experimental)
Lysosomal Storage Diseases
19 drugs (8 approved, 11 experimental)
Metal Metabolism, Inborn Errors
1 approved drug
Peroxisomal Disorders
14 drugs (10 approved, 4 experimental)
Progeria
7 drugs (4 approved, 3 experimental)
Purine-Pyrimidine Metabolism, Inborn Errors
Renal Tubular Transport, Inborn Errors
Steroid Metabolism, Inborn Errors
1 approved drug
Phase 3 Indicated Drugs (3)
Phase 1 Indicated Drugs (3)
Other Experimental Indicated Drugs (10)
Organization Involved with Phase 4 Indications (4)
Organization Involved with Phase 3 Indications (13)
Organization Involved with Phase 2 Indications (16)
Organization Involved with Phase 1 Indications (2)
Organization Involved with Other Experimental Indications (4)
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UMLS Data
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