Excretion of galactitol in the urine of heterozygotes of both forms of galactosemia.
In 36 heterozygotes with Gal-1-PUT deficiency and 3 heterozygotes with galactokinase deficiency galactitol (and galactose) was determined in the urine 2 and 4 h after an intravenous injection of 350 mg galactose/kg body weight (maximum dosis in adults 16 g). For the sake of comparison 10 healthy children and 5 adults, also 4 homozygotes with Gal-1-PUT deficiency and one sick child with galactokinase deficiency were included in this study. The heterozygotes with Gal-1-PUT deficiency demonstrated the same galactitol excretion as the healthy probands, while heterozygotes with galactokinase deficiency excreted a four-fold higher quantity of galactitol than the healthy and heterozygous probands of Gal-1-PUT deficiency. The child with the galactokinase deficiency excreted galactitol for a period of more than 24 h. These results are discussed.
D005690:Galactose / Q000652:urine; D005693:Galactosemias / Q000175:diagnosis / Q000652:urine*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D010770:Phosphotransferases / Q000172:deficiency; D013402:Sugar Alcohols / Q000652:urine*; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency
D013402:Sugar Alcohols; D010770:Phosphotransferases; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase; D005690:Galactose