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MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET
Descriptors Found:
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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
:
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
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS