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Peroxisomal Disorders

More information in Books or onNLM PubMed
Definition: 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.  general or unspecified; prefer specifics; do not confuse entry term ADRENOLEUKODYSTROPHY, NEONATAL with ADRENOLEUKODYSTROPHY   
Examples Adrenoleukodystrophy; Mevalonate Kinase Deficiency; Refsum Disease; Refsum Disease, Infantile; Zellweger Syndrome 		Other names Single Peroxisomal Dysfunctions; Single Peroxisomal Dysfunction; Peroxisomal Dysfunctions, Single; Peroxisomal Dysfunctions, Multiple; Peroxisomal Dysfunctions, General; Peroxisomal Disorder; Neonatal Adrenoleukodystrophy; Neonatal Adrenoleukodystrophies; Multiple Peroxisomal Dysfunctions; Multiple Peroxisomal Dysfunction; Hyperpipecolic Acidemias; General Peroxisomal Dysfunctions; General Peroxisomal Dysfunction; Dysfunctions, Single Peroxisomal; Dysfunctions, Multiple Peroxisomal; Dysfunctions, General Peroxisomal; Dysfunction, Single Peroxisomal; Dysfunction, Multiple Peroxisomal; Dysfunction, General Peroxisomal; Adrenoleukodystrophies, Neonatal
 
SubstanceCAS Registry & nameCategoriesSource
Peroxisome biogenesis disorders  0   *Peroxisomal Disorders.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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