About The Medical Condition Galactokinase Deficiency Disease
Find the definition of the medical term Galactokinase Deficiency Disease. Galactokinase Deficiency Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Galactokinase Deficiency Disease
| Galactokinase Deficiency Disease Medical Condition |
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What's The Definition Of The Medical Condition Galactokinase Deficiency Disease?
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)
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