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.