Metabolism, Inborn Errors
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
Subtype terms (15)
More specific conditions that are subtypes of Metabolism, Inborn Errors in the MeSH hierarchy.
- Amino Acid Metabolism, Inborn Errors
8 drugs (5 approved, 3 experimental)
- Amino Acid Transport Disorders, Inborn
- Amyloidosis, Familial
12 drugs (9 approved, 3 experimental)
- Brain Diseases, Metabolic, Inborn
1 drug experimental
- 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 (9 approved, 10 experimental)
- Metal Metabolism, Inborn Errors
1 drug approved
- 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 drug approved
Drugs by status
Phase 3 trials (5)
Phase 2 trials (9)
Phase 1 trials (3)
Organizations
Organization Involved with Phase 4 Indications (4)
Organization Involved with Phase 3 Indications (13)
- Merck
- Genzyme
- Aldagen
- Ionis Pharmaceuticals, Inc.
- Kastle Therapeutics, LLC
- National Institutes of Health (NIH)
- National Heart, Lung, and Blood Institute (NHLBI)
- Children's National Research Institute
- Duke University
- Institut National de la Santé Et de la Recherche Médicale, France
- University of Minnesota
- University of Paris
- Children's National Medical Center
Organization Involved with Phase 2 Indications (16)
- INC Research
- Moderna Therapeutics
- PTC Therapeutics
- National Center for Research Resources (NCRR)
- National Human Genome Research Institute (NHGRI)
- University of Pennsylvania
- Baylor University
- University of London
- Gottfried Wilhelm Leibniz Universität Hannover
- Johns Hopkins University
- New York Medical College
- Celerion
- Pierrel Research
- Medac
- The Clinical Trial Company
- Neopharm
Organization Involved with Phase 1 Indications (2)
Organization Involved with Other Experimental Indications (4)