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Descriptor English:   Biotinidase Deficiency 
Descriptor Spanish:   Deficiencia de Biotinidasa 
Descriptor Portuguese:   DeficiÍncia de Biotinidase 
Synonyms English:   BTD Deficiencies
BTD Deficiency
Biotinidase Deficiencies
Carboxylase Deficiency, Multiple, Late-Onset
Deficiencies, BTD
Deficiencies, Biotinidase
Deficiency, BTD
Deficiency, Biotinidase
Deficiency, Multiple Carboxylase, Late-Onset
Late Onset Biotin Responsive Multiple Carboxylase Deficiency
Late Onset Multiple Carboxylase Deficiency
Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency
Late-Onset Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency, Late Onset
Multiple Carboxylase Deficiency, Late-Onset  
Tree Number:   C16.320.565.100.620.100
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
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:   36028 
Unique Identifier:   D028921 

Occurrence in VHL: