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HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
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DeCS
Descriptor
English
:
Holocarboxylase Synthetase Deficiency
Descriptor
Spanish
:
Deficiencia de Holocarboxilasa Sintetasa
Descriptor
Portuguese
:
Deficiência de Holocarboxilase Sintetase
Synonyms
English
:
Carboxylase Deficiency, Multiple, Neonatal Form
Multiple Carboxylase Deficiency, Neonatal Form
Tree Number:
C16.320.565.100.620.380
C16.320.565.202.720.380
C18.452.648.100.620.380
C18.452.648.202.720.380
Definition
English
:
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).
See Related
English
:
Biotin
History Note
English
:
2002
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:
36029
Unique Identifier:
D028922
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS