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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
:
blood
cerebrospinal fluid
chemically induced
classification
complications
diet therapy
diagnosis
drug therapy
economics
ethnology
embryology
enzymology
epidemiology
etiology
genetics
history
immunology
metabolism
microbiology
mortality
nursing
pathology
prevention & control
physiopathology
parasitology
psychology
radiography
rehabilitation
radionuclide imaging
radiotherapy
surgery
therapy
urine
ultrasonography
veterinary
virology
Record Number:
36029
Unique Identifier:
D028922
Occurrence in VHL
:
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