Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Peroxisomal Disorders
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Peroxisomal Disorders
Description
A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders. MeSH
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Subtype Terms (7)
Adrenoleukodystrophy
40 drugs (24 approved, 16 experimental)
Chondrodysplasia Punctata, Rhizomelic
1 experimental drug
Mevalonate Kinase Deficiency
1 approved drug
Refsum Disease, Infantile
6 drugs (5 approved, 1 experimental)
Zellweger Syndrome
7 drugs (6 approved, 1 experimental)
Approved Indicated Drugs (1)
Phase 3 Indicated Drugs (1)
Other Experimental Indicated Drugs (3)
Organization Involved with Phase 3 Indications (4)
Organization Involved with Phase 2 Indications (1)
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UMLS Data
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