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PEROXISOMAL DISORDERS
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DeCS
Descriptor
English
:
Peroxisomal Disorders
Descriptor
Spanish
:
Trastorno Peroxisomal
Descriptor
Portuguese
:
Transtornos Peroxissômicos
Synonyms
English
:
Adrenoleukodystrophy, Neonatal
Hyperpipecolic Acidemia
Tree Number:
C10.228.140.163.100.680
C16.320.565.189.680
C16.320.565.663
C18.452.132.100.680
C18.452.648.189.680
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
:
96
Allowable Qualifiers
English
:
blood
cerebrospinal fluid
chemically induced
classification
complications
diet therapy
diagnosis
drug therapy
economics
ethnology
embryology
enzymology
epidemiology
etiology
genetics
history
immunology
metabolism
microbiology
mortality
nursing
pathology
prevention & control
physiopathology
parasitology
psychology
radiography
rehabilitation
radionuclide imaging
radiotherapy
surgery
therapy
urine
ultrasonography
veterinary
virology
Record Number:
32655
Unique Identifier:
D018901
Occurrence in VHL
:
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