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BIOTINIDASE DEFICIENCY
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DeCS
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
:
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:
36028
Unique Identifier:
D028921
Occurrence in VHL
:
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