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UDPGLUCOSE 4-EPIMERASE DEFICIENCY DISEASE
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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 (OVARIAN FAILURE, PREMATURE); 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
:
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:
5832
Unique Identifier:
D005693
Occurrence in VHL
:
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