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Peroxisomal Disorders MeSH Descriptor Data 2022


MeSH Heading
Peroxisomal Disorders
Tree Number(s)
C16.320.565.663
C18.452.648.663
Unique ID
D018901
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D018901
Annotation
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.
Entry Version
PEROXISOMAL DIS
Entry Term(s)
Adrenoleukodystrophy, Autosomal Neonatal Form
Adrenoleukodystrophy, Autosomal, Neonatal Form
Adrenoleukodystrophy, Neonatal
Hyperpipecolatemia
Hyperpipecolic Acidemia
Neonatal Adrenoleukodystrophy
Peroxisomal Dysfunction, General
Peroxisomal Dysfunction, Multiple
Peroxisomal Dysfunction, Single
NLM Classification #
QU 265.5.P4
Previous Indexing
Lipid Metabolism, Inborn Errors (1988-1995)
Metabolism, Inborn Errors (1988-1995)
Public MeSH Note
1996
History Note
1996
Date Established
1996/01/01
Date of Entry
1994/12/27
Revision Date
2015/06/08
Peroxisomal Disorders Preferred
Hyperpipecolic Acidemia Narrower
Peroxisomal Dysfunction, Multiple Narrower
Peroxisomal Dysfunction, Single Narrower
Adrenoleukodystrophy, Neonatal Narrower
Peroxisomal Dysfunction, General Narrower
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