Expresión de búsqueda:
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
Descriptores Encontrados:
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DeCS
Descriptor
Inglés
:
Holocarboxylase Synthetase Deficiency
Descriptor
Español
:
Deficiencia de Holocarboxilasa Sintetasa
Descriptor
Portugués
:
Deficiência de Holocarboxilase Sintetase
Sinónimos
Inglés
:
Carboxylase Deficiency, Multiple, Neonatal Form
Multiple Carboxylase Deficiency, Neonatal Form
Categoría:
C16.320.565.100.620.380
C16.320.565.202.720.380
C18.452.648.100.620.380
C18.452.648.202.720.380
Definición
Inglés
:
The neonatal form of
MULTIPLE CARBOXYLASE DEFICIENCY
that is caused by a defect or deficiency in holocarboxylase synthetase. HLCS is the enzyme that covalently links
biotin
to the
biotin
dependent carboxylases (propionyl-CoA-carboxylase,
pyruvate carboxylase
, and beta-methylcrotonyl-CoA carboxylase).
Relacionados
Inglés
:
Biotin
Nota Histórica
Inglés
:
2002
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:
36029
Identificador Único:
D028922
Ocurrencia en la BVS
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS