Peroxisomal Disorders
Synonyms
Acidemia, Hyperpipecolic
Acidemias, Hyperpipecolic
Adrenoleukodystrophies, Neonatal
Adrenoleukodystrophy, Autosomal Neonatal Form
Adrenoleukodystrophy, Autosomal, Neonatal Form
Adrenoleukodystrophy, Neonatal
Dysfunction, General Peroxisomal
Dysfunction, Multiple Peroxisomal
Dysfunction, Single Peroxisomal
Dysfunctions, General Peroxisomal
Dysfunctions, Multiple Peroxisomal
Dysfunctions, Single Peroxisomal
General Peroxisomal Dysfunction
General Peroxisomal Dysfunctions
Hyperpipecolatemia
Hyperpipecolic Acidemia
Hyperpipecolic Acidemias
Multiple Peroxisomal Dysfunction
Multiple Peroxisomal Dysfunctions
Neonatal Adrenoleukodystrophies
Neonatal Adrenoleukodystrophy
Peroxisomal Disorder
Peroxisomal Dysfunction, General
Peroxisomal Dysfunction, Multiple
Peroxisomal Dysfunction, Single
Peroxisomal Dysfunctions, General
Peroxisomal Dysfunctions, Multiple
Peroxisomal Dysfunctions, Single
Single Peroxisomal Dysfunction
Single Peroxisomal Dysfunctions
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.