Search on: CARBOXYLASE DEFICIENCY, MULTIPLE 
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Descriptor English:   Multiple Carboxylase Deficiency 
Descriptor Spanish:   deficiencia múltiple de carboxilasa 
Descriptor Portuguese:   Deficiência Múltipla de Carboxilase 
Synonyms English:   Carboxylase Deficiencies, Combined
Carboxylase Deficiencies, Multiple
Carboxylase Deficiency, Combined
Carboxylase Deficiency, Multiple
Combined Carboxylase Deficiencies
Combined Carboxylase Deficiency
Deficiencies, Combined Carboxylase
Deficiencies, Multiple Carboxylase
Deficiency, Combined Carboxylase
Deficiency, Multiple Carboxylase
Multiple Carboxylase Deficiencies  
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:  
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:   19252 
Unique Identifier:   D009100 

Occurrence in VHL:
 

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