Amino Acid Metabolism, Inborn Errors
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.
Subtype terms (13)
More specific conditions that are subtypes of Amino Acid Metabolism, Inborn Errors in the MeSH hierarchy.
- Albinism
6 drugs (4 approved, 2 experimental)
- Alkaptonuria
1 drug approved
- Hyperglycinemia, Nonketotic
1 drug experimental
- Hyperhomocysteinemia
17 drugs (10 approved, 7 experimental)
- Hyperlysinemias
- Maple Syrup Urine Disease
1 drug approved
- Multiple Acyl Coenzyme A Dehydrogenase Deficiency
2 drugs experimental
- Multiple Carboxylase Deficiency
- Phenylketonurias
29 drugs (7 approved, 22 experimental)
- Prolidase Deficiency
- Propionic Acidemia
15 drugs (5 approved, 10 experimental)
- Tyrosinemias
1 drug approved
- Urea Cycle Disorders, Inborn
17 drugs (9 approved, 8 experimental)
Drugs by status
Approved for this indication (1)
Phase 2 trials (5)
Phase 1 trials (2)
Organizations
Organization Involved with Phase 3 Indications (1)
Organization Involved with Phase 2 Indications (15)
- Genzyme
- Moderna Therapeutics
- PTC Therapeutics
- National Institutes of Health (NIH)
- National Center for Research Resources (NCRR)
- Children's National Research Institute
- University of Pennsylvania
- Baylor University
- Case Western Reserve University
- Harvard University
- Johns Hopkins University
- Stanford University
- University of California, Los Angeles
- University of Colorado, Denver
- Children's National Medical Center
Organization Involved with Phase 1 Indications (1)
Organization Involved with Other Experimental Indications (2)