title: Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia.
abstract: The galactosemias are a series of three inborn errors of metabolism caused by deficiency of any one of the three human galactose-metabolic enzymes: galactokinase (GALK), galactose-1-phosphate uridyl transferase (GALT), and UDP-galactose 4' epimerase (GALE). We report here the characterization of the entire coding sequence of the GALE gene and screening for mutations in epimerase-deficient individuals. The human GALE gene is about 4 kb in size and is divided into 11 exons on chromosome band 1p36. We have identified five mutations in the GALE gene of epimerase-deficient galactosemia patients. The patients were either homozygotes or compound heterozygotes for mutations. These results confirm that epimerase-deficiency galactosemia is the result of missense mutations in the GALE gene and indicate that the disease is characterized by extensive allelic heterogeneity.
authors.affiliation: Institute for Genetic Medicine, University of Southern California, Los Angeles 90033, USA.
authors.forename: P
authors.initials: P
authors.lastname: Maceratesi
authors.forename: N
authors.initials: N
authors.lastname: Daude
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: G
authors.initials: G
authors.lastname: Novelli
authors.forename: R
authors.initials: R
authors.lastname: Allen
authors.forename: Y
authors.initials: Y
authors.lastname: Okano
authors.forename: J
authors.initials: J
authors.lastname: Reichardt
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D004252:DNA Mutational Analysis; D005693:Galactosemias / Q000235:genetics*; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008969:Molecular Sequence Data; D009154:Mutation; D017422:Sequence Analysis, DNA; D014534:UDPglucose 4-Epimerase / Q000172:deficiency / Q000235:genetics*
chemical_list: D014534:UDPglucose 4-Epimerase