Expresión de búsqueda:
UREA CYCLE DISORDERS, INBORN
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DeCS
Descriptor
Inglés
:
Urea Cycle Disorders, Inborn
Descriptor
Español
:
Trastornos Innatos del Ciclo de la Urea
Descriptor
Portugués
:
Distúrbios Congęnitos do Ciclo da Ureia
Sinónimos
Inglés
:
Inborn Urea Cycle Disorder
Urea Cycle Disorders
Categoría:
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
Definición
Inglés
:
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.
Nota Histórica
Inglés
:
2010
Calificadores Permitidos
Inglés
:
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
Número del Registro:
53507
Identificador Único:
D056806
Ocurrencia en la BVS
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS