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UREA CYCLE DISORDERS
Descriptors Found:
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DeCS
Descriptor
English
:
Urea Cycle Disorders, Inborn
Descriptor
Spanish
:
Trastornos Innatos del Ciclo de la Urea
Descriptor
Portuguese
:
Distúrbios Congęnitos do Ciclo da Ureia
Synonyms
English
:
Inborn Urea Cycle Disorder
Urea Cycle Disorders
Tree Number:
C10.228.140.163.100.937
C16.320.565.100.940
C16.320.565.189.937
C18.452.132.100.937
C18.452.648.100.940
C18.452.648.189.937
Definition
English
:
Rare congenital
metabolism
disorders of the
urea
cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or
adult
onset) inactivity of an enzyme, involved in the
urea
cycle. Neonatal onset results in clinical features that include irritability,
vomiting
,
lethargy
,
seizures
, NEONATAL HYPOTONIA; RESPIRATORY
ALKALOSIS
;
HYPERAMMONEMIA
;
coma
, and
death
.
Survivors
of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY
ALKALOSIS
due to
HYPERAMMONEMIA.
History Note
English
:
2010
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:
53507
Unique Identifier:
D056806
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS