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MULTIPLE CARBOXYLASE DEFICIENCY
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DeCS
Descriptor
English
:
Multiple Carboxylase Deficiency
Descriptor
Spanish
:
Deficiencia Múltiple de Carboxilasa
Descriptor
Portuguese
:
Deficiência Múltipla de Carboxilase
Synonyms
English
:
Carboxylase Deficiency, Multiple
Combined Carboxylase Deficiency
Tree Number:
C16.320.565.100.620
C16.320.565.202.720
C18.452.648.100.620
C18.452.648.202.720
Definition
English
:
A deficiency in the activities of biotin-dependent
enzymes
(
propionyl-CoA carboxylase
, methylcrotonyl-CoA carboxylase, and
PYRUVATE CARBOXYLASE
) due to one of two defects in
BIOTIN
metabolism
. The neonatal form is due to
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
. The late-onset form is due to
BIOTINIDASE DEFICIENCY.
See Related
English
:
Biotin
History Note
English
:
87
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:
19252
Unique Identifier:
D009100
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS