Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients

• Published in: Molecular genetics and metabolism 2004, Vol.81 (1), p.31-44
• Main Authors: Schadewaldt, Peter, Kamalanathan, Loganathan, Hammen, Hans-Werner, Wendel, Udo
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Age Factors; Body Height; Body Weight; Carbon Isotopes; Child; Child, Preschool; Galactitol; Galactitol - blood; Galactitol - metabolism; Galactitol - urine; Galactokinase; Galactonic acid; Galactose; Galactose - blood; Galactose - metabolism; Galactose - urine; galactose-1-phosphate; Galactose-1-phosphate uridyltransferase; Galactosemia; Galactosemias - genetics; Galactosemias - metabolism; Human; Humans; Infusion Pumps; Metabolism; Models, Biological; Mutation; Sugar Acids - blood; Sugar Acids - metabolism; Sugar Acids - urine; UTP-Hexose-1-Phosphate Uridylyltransferase - metabolism
• ISSN: 1096-7192; 1096-7206
• DOI: 10.1016/j.ymgme.2003.10.007

The age dependence of endogenous galactose formation was investigated in Q188R homozygous galactosemic patients ( n=18; 4–38 years) using the primed continuous infusion approach with d-[1- 13C]galactose as a substrate. Studies were conducted under postabsorptive conditions (fasting >10 h) and good metabolic control. In the patients, the release of galactose from endogenous sources into plasma ( R a) decreased with age and ranged from 4.6 to 2.0 μmol/kg body weight per h. Galactitol and galactonate release rates paralleled the galactose R a but at a lower level. The mean relation of galactose, galactitol, and galactonate release was 10:5:1. Statistically, there was a highly significant ( p