Peroxisomala sjukdomar
En heterogen grupp av ärftliga metaboliska störningar markerade av frånvarande eller dysfunktionella PEROXISOMER. Peroxisomala enzymatiska abnormiteter kan vara singel eller multipel. Biosyntetiska peroxisomala vägar äventyras, inklusive förmågan att syntetisera eterlipider och oxidera långkedjiga fettsyraprekursorer. Sjukdomar i denna kategori inkluderar ZELLWEGER SYNDROM; INFANTIL REFSUM-SJUKDOM; rhizomelisk kondrodysplasi (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrofi; och ADRENOLEUKODYSTROPHY (X-bunden). Neurologisk dysfunktion är ett framträdande inslag i de flesta peroxisomala sjukdomar.
Förklaring på engelska
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.
Synonym, svenska:
Synonym, engelska: 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
| Svensk term | Peroxisomala sjukdomar |
| Synonym på svenska | |
| Synonym på engelska | 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 |
| Engelsk term | Peroxisomal Disorders |
| MESH ID | D018901 |