Search on: CARBOXYLASE DEFICIENCY, MULTIPLE, NEONATAL FORM 
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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
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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