About The Medical Condition UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency
Find the definition of the medical term UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency. UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency
| UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency Medical Condition |
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What's The Definition Of The Medical Condition UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency?
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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