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.
Synonyms: Peroxisomal Dysfunctions, General, Peroxisomal Disorders, Dysfunction, Multiple Peroxisomal, Peroxisomal Dysfunction, General, Peroxisomal Dysfunction, Multiple, Multiple Peroxisomal Dysfunctions, Hyperpipecolic Acidemia, Dysfunctions, Multiple Peroxisomal, General Peroxisomal Dysfunction, Single Peroxisomal Dysfunction, Adrenoleukodystrophy, Autosomal, Neonatal Form, Dysfunctions, Single Peroxisomal, General Peroxisomal Dysfunctions, Peroxisomal Disorder, Neonatal Adrenoleukodystrophies, Peroxisomal Dysfunctions, Multiple, Peroxisomal Dysfunction, Single, Dysfunction, Single Peroxisomal, Adrenoleukodystrophies, Neonatal, Multiple Peroxisomal Dysfunction, Hyperpipecolic Acidemias, Adrenoleukodystrophy, Neonatal, Acidemias, Hyperpipecolic, Adrenoleukodystrophy, Autosomal Neonatal Form, Acidemia, Hyperpipecolic, Neonatal Adrenoleukodystrophy, Dysfunctions, General Peroxisomal, Hyperpipecolatemia, Single Peroxisomal Dysfunctions, Peroxisomal Dysfunctions, Single, Dysfunction, General Peroxisomal
Instance information
1996 ,general or unspecified; prefer specifics; do not confuse entry term ADRENOLEUKODYSTROPHY, NEONATAL with ADRENOLEUKODYSTROPHY
D018901