Peroxisomal Disorders D018901

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

Subtype Terms (7)

Acatalasia
 

Adrenoleukodystrophy
37 drugs (23 approved, 14 experimental)

Chondrodysplasia Punctata, Rhizomelic
 

Mevalonate Kinase Deficiency
1 approved drug

Refsum Disease
 

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)

Hierarchy Tree View

UMLS Data


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