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HYPERPIPECOLIC ACIDEMIA
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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:
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
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
RA
radiography
RI
radionuclide imaging
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
US
ultrasonography
UR
urine
VE
veterinary
VI
virology
Record Number:
32655
Unique Identifier:
D018901
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS