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UDPGLUCOSE 4-EPIMERASE DEFICIENCY DISEASE
Descriptors Found:
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DeCS
Descriptor
English
:
Galactosemias
Descriptor
Spanish
:
Galactosemias
Descriptor
Portuguese
:
Galactosemias
Synonyms
English
:
Galactokinase Deficiency Disease
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease
UDPglucose-Hexose-1-Phosphate Uridylyltransferase Deficiency
UDPglucose 4-Epimerase Deficiency Disease
Tree Number:
C10.228.140.163.100.320
C16.320.565.189.320
C16.320.565.202.355
C18.452.132.100.320
C18.452.648.189.320
C18.452.648.202.355
Definition
English
:
A group of inherited enzyme deficiencies which feature elevations of
GALACTOSE
in the
blood
. This condition may be associated with deficiencies of
GALACTOKINASE
;
UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE
; or
UDPGLUCOSE 4-EPIMERASE
. The classic form is caused by
UDPglucose-Hexose-1-Phosphate Uridylyltransferase
deficiency, and presents in infancy with
FAILURE TO THRIVE
;
VOMITING
; and
INTRACRANIAL HYPERTENSION
. Affected individuals also may develop MENTAL RETARDATION;
JAUNDICE
; hepatosplenomegaly; ovarian failure (
PRIMARY OVARIAN INSUFFICIENCY
); and cataracts. (From Menkes, Textbook of
Child
Neurology
, 5th ed, pp61-3)
See Related
English
:
Galactokinase
Galactose
UDPglucose 4-Epimerase
UDPglucose-Hexose-1-Phosphate Uridylyltransferase
UTP-Hexose-1-Phosphate Uridylyltransferase
History Note
English
:
2000(1966)
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:
5832
Unique Identifier:
D005693
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS