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Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Peroxisomal Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Peroxisomal Disorders

Preferred term

Peroxisomal Disorders  

Type

  • Topical Descriptor

Broader concept

Narrower concepts

Related concepts

Entry terms

  • Acidemia, Hyperpipecolic
  • Acidemias, Hyperpipecolic
  • Adrenoleukodystrophies, Neonatal
  • Adrenoleukodystrophy, Neonatal
  • Dysfunction, General Peroxisomal
  • Dysfunction, Multiple Peroxisomal
  • Dysfunctions, General Peroxisomal
  • Dysfunction, Single Peroxisomal
  • Dysfunctions, Multiple Peroxisomal
  • Dysfunctions, Single Peroxisomal
  • General Peroxisomal Dysfunction
  • General Peroxisomal Dysfunctions
  • Hyperpipecolic Acidemia
  • Hyperpipecolic Acidemias
  • Multiple Peroxisomal Dysfunction
  • Multiple Peroxisomal Dysfunctions
  • Neonatal Adrenoleukodystrophies
  • Peroxisomal Dysfunction, General
  • Peroxisomal Dysfunction, Multiple
  • Peroxisomal Dysfunctions, General
  • Peroxisomal Dysfunction, Single
  • Peroxisomal Dysfunctions, Multiple
  • Peroxisomal Dysfunctions, Single
  • Single Peroxisomal Dysfunction
  • Single Peroxisomal Dysfunctions

Note

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

Scope note

  • 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.

History note

  • 1996

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URI

http://www.yso.fi/onto/mesh/D018901

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