Galactosemias (Galactosemia)
517
relevant articles (6 outcomes,
41 trials/studies)
found for this Disease
Description:
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)
Also Known As:
Galactosemia; UTP Hexose-1-Phosphate Uridylyltransferase Deficiency; Classic Galactosemia; Galactose 1 Phosphate Uridyl Transferase Deficiency Disease; UDP Galactose 4 Epimerase Deficiency Disease; Galactokinase Deficiency Disease; Deficiency Disease, Galactokinase; Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase; Deficiency Disease, UDP-Galactose-4-Epimerase; Deficiency Disease, UDPglucose 4-Epimerase; Galactosemia, Classic; UDP-Galactose-4-Epimerase Deficiency Disease; Classic Galactosemias; Deficiencies, UDPglucose-Hexose-1-Phosphate Uridylyltransferase; Deficiency Disease, Galactose 1 Phosphate Uridyl Transferase; Deficiency Disease, UDP Galactose 4 Epimerase; Deficiency Disease, UDPglucose 4 Epimerase; Deficiency Diseases, UDP-Galactose-4-Epimerase; Deficiency, UDPglucose-Hexose-1-Phosphate Uridylyltransferase; Disease, UDP-Galactose-4-Epimerase Deficiency; Diseases, UDP-Galactose-4-Epimerase Deficiency; Galactokinase Deficiency Diseases; Galactosemias, Classic; UDP-Galactose-4-Epimerase Deficiency Diseases; UDPglucose 4 Epimerase Deficiency Disease; UDPglucose Hexose 1 Phosphate Uridylyltransferase Deficiency; UDPglucose-Hexose-1-Phosphate Uridylyltransferase Deficiencies; UTP Hexose 1 Phosphate Uridylyltransferase Deficiency; Uridylyltransferase Deficiencies, UDPglucose-Hexose-1-Phosphate; Uridylyltransferase Deficiency, UDPglucose-Hexose-1-Phosphate; Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease; UDPglucose 4-Epimerase Deficiency Disease; UDPglucose-Hexose-1-Phosphate Uridylyltransferase Deficiency
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Disease Context: Research Results