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Descriptor English: Biotinidase Deficiency
Descriptor Spanish: Deficiencia de Biotinidasa
Descriptor deficiencia de biotinidasa
Entry term(s) deficiencia de carboxilasa múltiple de inicio tardío
deficiencia múltiple de carboxilasa de inicio tardío
Scope note: Forma de comienzo tardío de la DEFICIENCIA MÚLTIPLE DE CARBOXILASA (déficit de la actividad de las enzimas biotin-dependientes propionil-CoA carboxilasa, metilcrotonil-CoA carboxilasa y PIRUVATO CARBOXILASA) debido a un defecto o déficit de biotinidasa que es esencial para reciclar la BIOTINA.
Descriptor Portuguese: Deficiência de Biotinidase
Descriptor French: Déficit en biotinidase
Entry term(s): 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(s): C16.320.565.100.620.100
C16.320.565.202.720.100
C18.452.648.100.620.100
C18.452.648.202.720.100
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D028921
Scope note: 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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Amidohydrolases/deficiency (1983-2001)
Public MeSH Note: 2002
History Note: 2002
Entry Version: BIOTINIDASE DEFIC
Related: Biotin MeSH
DeCS ID: 36028
Unique ID: D028921
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2002/01/01
Date of Entry: 2001/08/03
Revision Date: 2013/07/08
Biotinidase Deficiency - Preferred
Concept UI M0381891
Scope note 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.
Preferred term Biotinidase Deficiency
Entry term(s) 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



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