Peroxisomal Disorders

Peroxisomala sjukdomar

Engelsk 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.

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Engelska synonymer

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