This is an autosomal recessive disorder, and unlike galactose-1-phosphate uridyltransferase deficiency, the symptoms are relatively mild. The only known symptom in affected children is the formation of cataracts, due to production of galactitol in the lens of the eye. Cataracts can present as a failure to develop a social smile and failure to visually track moving objects.
Studies from University Hospital, Department of Paediatrics have provided new data on clinical laboratory analysis.
Jul 17, 2010; Current study results from the report, 'Vertical sandwich-type continuous/evaporative TLC with fixed mobile phase volume for...