title: In vivo oxidation of [13C]galactose in patients with galactose-1-phosphate uridyltransferase deficiency.
abstract: We developed an intravenous and oral [13C]galactose breath test for the in vivo study of galactose metabolism. Following an intravenous bolus of 7 mg/kg of [1-13C]galactose in the fasting state, normal children and adults eliminated 3-6% and 21-47% of the bolus as 13CO2 in expired air collected over 1 and 5 h, respectively. Comparable fractional elimination was seen when the dose was given orally. Patients with galactosemia who have barely detectable or absent galactose-1-phosphate uridyltransferase (GALT) activity in erythrocytes and are homoallelic for the Q188R gene mutation, when given a 7 mg/kg intravenous bolus had barely detectable 13CO2 in air samples in the first hour, but eventually eliminated as much as 3.6% of the dose in 5 h. A galactosemia/Duarte (Q188R/N314D) compound heterozygote and a homozygous Duarte subject, as well as a subject with one normal allele and one Q188R allele, showed normal in vivo oxidation. An assessment of whole body galactose metabolism can be made with this procedure. Further use of this in vivo modality in patients with different genetic backgrounds should increase our understanding of genotype-phenotype relationships in hereditary galactosemia.
authors.affiliation: Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, USA.
authors.forename: G T
authors.initials: GT
authors.lastname: Berry
authors.forename: I
authors.initials: I
authors.lastname: Nissim
authors.forename: A T
authors.initials: AT
authors.lastname: Mazur
authors.forename: L J
authors.initials: LJ
authors.lastname: Elsas
authors.forename: R H
authors.initials: RH
authors.lastname: Singh
authors.forename: P D
authors.initials: PD
authors.lastname: Klein
authors.forename: J B
authors.initials: JB
authors.lastname: Gibson
authors.forename: Z
authors.initials: Z
authors.lastname: Lin
authors.forename: S
authors.initials: S
authors.lastname: Segal
mesh_terms: D000293:Adolescent; D000328:Adult; D001944:Breath Tests; D002239:Carbohydrate Metabolism, Inborn Errors / Q000378:metabolism*; D002247:Carbon Isotopes; D002648:Child; D005260:Female; D005690:Galactose / Q000378:metabolism*; D005947:Glucose / Q000096:biosynthesis; D006801:Humans; D008297:Male; D013058:Mass Spectrometry; D009154:Mutation; D015203:Reproducibility of Results; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency* / Q000235:genetics
chemical_list: D002247:Carbon Isotopes; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase; D005947:Glucose; D005690:Galactose