Search on: MULTIPLE CARBOXYLASE DEFICIENCY 
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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:  
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:   19252 
Unique Identifier:   D009100 

Occurrence in VHL: 		 

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