title: Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia.
abstract: Urinary excretion of galactitol was determined in 95 normals (N/N), 67 galactosemic (G/G), and 39 compound heterozygotes for the Duarte and galactosemia genotype (D/G). Galactitol excretion is age-dependent in both normal individuals and patients with classic galactosemia on lactose-restricted diets. In galactosemic patients who are homozygous for the Q188R mutation, urinary galactitol levels were fivefold to 10-fold higher than those of normal subjects of comparable age. All but a few patients with classic galactosemia with the Q188R mutation and another mutant G allele had urinary excretion comparable to the Q188R homozygous patients. African-American galactosemic patients with the S135L mutation of the galactose-1-phosphate uridyltransferase (GALT) gene also excreted abnormal quantities of galactitol. Most subjects with a Duarte allele and a G allele excrete normal amounts of the sugar alcohol. There is a correlation between galactitol excretion and red blood cell (RBC) galactose-1-phosphate (gal-1-P). Plasma galactitol was also elevated in galactosemic patients (3.4 to 23.2 micromol/L; undetectable in normal individuals). In contrast to the decrease in urinary galactitol with age, plasma levels remain in a narrow concentration range with no significant difference with age. Urine and plasma galactitol distinguish galactosemic patients from normals. In addition, urinary galactitol excretion may be an important parameter for the assessment of steady-state galactose metabolism in galactosemia.
authors.affiliation: Department of Pediatrics, University of Pennsylvania School of Medicine, Children's Hospital of Philadelphia, 19104, USA.
authors.forename: M
authors.initials: M
authors.lastname: Palmieri
authors.forename: A
authors.initials: A
authors.lastname: Mazur
authors.forename: G T
authors.initials: GT
authors.lastname: Berry
authors.forename: C
authors.initials: C
authors.lastname: Ning
authors.forename: S
authors.initials: S
authors.lastname: Wehrli
authors.forename: C
authors.initials: C
authors.lastname: Yager
authors.forename: R
authors.initials: R
authors.lastname: Reynolds
authors.forename: R
authors.initials: R
authors.lastname: Singh
authors.forename: K
authors.initials: K
authors.lastname: Muralidharan
authors.forename: S
authors.initials: S
authors.lastname: Langley
authors.forename: L
authors.initials: L
authors.lastname: Elsas
authors.forename: S
authors.initials: S
authors.lastname: Segal
mesh_terms: D000293:Adolescent; D000367:Age Factors; D019943:Amino Acid Substitution; D044383:Black People; D002648:Child; D002675:Child, Preschool; D018388:Codon, Terminator; D004376:Galactitol / Q000097:blood* / Q000652:urine; D005693:Galactosemias / Q000097:blood / Q000235:genetics* / Q000652:urine; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D017354:Point Mutation; D012016:Reference Values; D017384:Sequence Deletion; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency / Q000235:genetics*; D014481:United States; D044465:White People; D001741:Black or African American
chemical_list: D018388:Codon, Terminator; D004376:Galactitol; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase