Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency.

  title={Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency.},
  author={Peter Schadewaldt and Loganathan Kamalanathan and H. van der Hammen and Jorg Kotzka and Udo Wendel},
  journal={Archives of physiology and biochemistry},
  volume={120 5},
Patients with classical galactosaemia (galactose-1-phosphate uridyltransferase (GALT) deficiency) manifest clinical complications despite strict dietary galactose restriction. Therefore the significance of endogenous galactose production has been assessed. Previous in vivo studies primarily focused on patients homozygous for the most common genetic variant Q188R but little is known about other genetic variants. In the present study the endogenous galactose release in a group of non-Q188R… CONTINUE READING
Recent Discussions
This paper has been referenced on Twitter 2 times over the past 90 days. VIEW TWEETS