Search on: PEROXISOMAL DISORDERS 
Descriptors Found: 1
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Descriptor English:   Peroxisomal Disorders 
Descriptor Spanish:   Trastorno Peroxisomal 
Descriptor Portuguese:   Transtornos Peroxissômicos 
Synonyms English:   Acidemia, Hyperpipecolic
Acidemias, Hyperpipecolic
Adrenoleukodystrophies, Neonatal
Adrenoleukodystrophy, Autosomal Neonatal Form
Adrenoleukodystrophy, Autosomal, Neonatal Form
Adrenoleukodystrophy, 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
Hyperpipecolatemia
Hyperpipecolic Acidemia
Hyperpipecolic Acidemias
Multiple Peroxisomal Dysfunction
Multiple Peroxisomal Dysfunctions
Neonatal Adrenoleukodystrophies
Neonatal Adrenoleukodystrophy
Peroxisomal Disorder
Peroxisomal Dysfunction, General
Peroxisomal Dysfunction, Multiple
Peroxisomal Dysfunction, Single
Peroxisomal Dysfunctions, General
Peroxisomal Dysfunctions, Multiple
Peroxisomal Dysfunctions, Single
Single Peroxisomal Dysfunction
Single Peroxisomal Dysfunctions  
Tree Number:   C16.320.565.663
C18.452.648.663
Definition English:   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. 
Indexing Annotation English:   general or unspecified; prefer specifics; do not confuse entry term ADRENOLEUKODYSTROPHY, NEONATAL with ADRENOLEUKODYSTROPHY
History Note English:   1996 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   32655 
Unique Identifier:   D018901 

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