About The Medical Condition Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease

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Find the definition of the medical term Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease. Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.

Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease

Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease Medical Condition Defined & Explained
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease Medical Condition

What's The Definition Of The Medical Condition Galactose-1-Phosphate Uridyl-Transferase 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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