Search on: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 
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Descriptor English:   Holocarboxylase Synthetase Deficiency 
Descriptor Spanish:   deficiencia de holocarboxilasa sintetasa 
Descriptor Portuguese:   Deficiência de Holocarboxilase Sintetase 
Synonyms English:   Carboxylase Deficiency, Multiple, Neonatal Form
Deficiencies, HLCS
Deficiencies, Holocarboxylase Synthetase
Deficiency, HLCS
Deficiency, Holocarboxylase Synthetase
Deficiency, Multiple Carboxylase, Neonatal Form
Early Onset Biotin Responsive Multiple Carboxylase Deficiency
Early Onset Combined Carboxylase Deficiency
Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency
Early-Onset Combined Carboxylase Deficiency
HLCS Deficiencies
HLCS Deficiency
Holocarboxylase Synthetase Deficiencies
Infantile Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency, Early Onset
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
DG diagnostic imaging 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 RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   36029 
Unique Identifier:   D028922 

Occurrence in VHL:
 

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