Search on: BIOTINIDASE DEFICIENCY 
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Descriptor English:   Biotinidase Deficiency 
Descriptor Spanish:   Deficiencia de Biotinidasa 
Descriptor Portuguese:   Deficiência de Biotinidase 
Synonyms English:   Carboxylase Deficiency, Multiple, Late-Onset
Multiple Carboxylase Deficiency, Late-Onset  
Tree Number:   C16.320.565.100.620.100
C16.320.565.202.720.100
C18.452.648.100.620.100
C18.452.648.202.720.100
Definition English:   The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN. 
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
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
RA radiography RI radionuclide imaging
RT radiotherapy RH rehabilitation
SU surgery TH therapy
US ultrasonography UR urine
VE veterinary VI virology
Record Number:   36028 
Unique Identifier:   D028921 

Occurrence in VHL: 		 

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