Peroxisomal Disorders (also known as Peroxisomal Disorder, Adrenoleukodystrophy, Neonatal): 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 th

NIH MeSH · D018901Diseases

Peroxisomal Disorders

Also known asPeroxisomal Disorder · Adrenoleukodystrophy, Neonatal · Adrenoleukodystrophies, Neonatal · Neonatal Adrenoleukodystrophies · Adrenoleukodystrophy, Autosomal Neonatal Form · Adrenoleukodystrophy, Autosomal, Neonatal Form · Neonatal Adrenoleukodystrophy · Hyperpipecolic Acidemia · Acidemia, Hyperpipecolic · Acidemias, Hyperpipecolic · Hyperpipecolic Acidemias · Hyperpipecolatemia

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.

MeSH classification

  • C16.320.565.663
  • C18.452.648.663

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Common questions about Peroxisomal Disorders

What does Peroxisomal Disorders mean in medicine?
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. This definition is taken from the National Library of Medicine's MeSH (Medical Subject Headings) 2026 release, which is the standard vocabulary used to index PubMed and most medical literature.
Is Peroxisomal Disorders known by any other names?
Yes. Peroxisomal Disorders is also referred to as Peroxisomal Disorder, Adrenoleukodystrophy, Neonatal, Adrenoleukodystrophies, Neonatal, Neonatal Adrenoleukodystrophies in different clinical, research and patient-facing contexts. The MeSH descriptor groups all of these synonyms under a single canonical concept so research and records stay consistent.
Where does Peroxisomal Disorders sit in the medical classification?
Peroxisomal Disorders falls under the broader medical category "Diseases" in the MeSH hierarchy (tree numbers: C16.320.565.663, C18.452.648.663). Browsing the related concepts on this page takes you to neighbouring topics in the same branch of medicine.
Where can I get a plain-language explanation of Peroxisomal Disorders?
For a plain-language explanation of Peroxisomal Disorders - including symptoms, treatments and what it means for an Indian patient - ask GoDavaii's Health AI. It works in 22+ Indian languages, is free and needs no signup. Tap "Ask GoDavaii AI about Peroxisomal Disorders" above.

Source: NIH MeSH 2026 (D018901) — National Library of Medicine, public domain. View official MeSH record ↗