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

ClusterMed
  1. ClusterMed.info
  2. Medical Conditions
  3. D Illnesses And Diseases
  4. De
  5. Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase

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

Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase

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

What's The Definition Of The Medical Condition Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase?

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)

More Medical Conditions

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

Medical Conditions Definitions Of The Day