Diseases

Peroxisomal Disorders

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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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Classification

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Synonyms

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

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

Indexing Annotation

general or unspecified; prefer specifics; do not confuse entry term ADRENOLEUKODYSTROPHY, NEONATAL with ADRENOLEUKODYSTROPHY

MeSH Record

History Note

1996

MeSH Record

Previous Indexing

  • Lipid Metabolism, Inborn Errors (1988-1995)
  • Metabolism, Inborn Errors (1988-1995)

MeSH Hierarchy

Tree Numbers

MeSH Record

NLM Classification

QU 265.5.P4

AMA Style

References

  1. National Library of Medicine. Peroxisomal Disorders. Medical Subject Headings (MeSH). 2026. Unique ID D018901. http://id.nlm.nih.gov/mesh/2026/D018901
  2. Peroxisomal Disorders. In: Wikipedia. https://en.wikipedia.org/wiki/Peroxisomal_disorder
  3. Peroxisomal Disorders. In: Wikidata. https://www.wikidata.org/wiki/Q3281322