title: Galactitol and galactonate in red blood cells of children with the Duarte/galactosemia genotype.
abstract: We measured galactitol, galactonate, and galactose-1-phosphate in the red blood cell (RBC) to elucidate the biochemical phenotype of infants with a Duarte/galactosemia (D/G) genotype by isotope dilution GC/MS. The RBC galactonate, galactitol and Gal-1-P were quantified in 14 D/G newborns on a lactose containing formula or breast milk, eight D/G newborns on a galactose-free formula, and 18 D/G children between 1 and 2 years of age that were on a regular diet. The results were compared with those of non-galactosemic subjects of comparable age. In the D/G newborns on regular formula/breast milk, the levels of RBC galactitol, galactonate, and Gal-1-P were significantly higher than those of D/G newborns on diet treatment and non-galactosemic newborns. There was no difference in the levels of RBC galactitol, galactonate, and Gal-1-P between D/G newborns on a lactose-restricted diet and the control group. There appears to be two different responses to dietary galactose intake in D/G children. The first group of D/G children placed on a regular diet after a year of lactose restriction had higher RBC galactitol, galactonate levels than those of non-galactosemic children. The mean level of RBC galactonate was higher and the mean value of RBC galactitol was as high as that of galactosemic (G/G) patients on diet treatment. The second group of D/G children on a regular diet had normal levels of RBC galactitol and galactonate. The levels of RBC Gal-1-P were normal in both groups of D/G patients. The alternative pathway products may reflect galactose intake better than RBC Gal-1-P in D/G children.
authors.affiliation: The Section of Biochemical Genetics and the Metabolic Research Laboratory, The Children's Hospital of Philadelphia, The Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
authors.forename: Can
authors.initials: C
authors.lastname: Ficicioglu
authors.forename: Claire
authors.initials: C
authors.lastname: Yager
authors.forename: Stanton
authors.initials: S
authors.lastname: Segal
mesh_terms: D004912:Erythrocytes / Q000378:metabolism*; D004376:Galactitol / Q000097:blood*; D005693:Galactosemias / Q000235:genetics*; D008401:Gas Chromatography-Mass Spectrometry; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D013400:Sugar Acids / Q000097:blood*
chemical_list: D013400:Sugar Acids; D004376:Galactitol; C012991:galactonic acid