title: Mutation analysis in glycogen storage disease type 1 non-a.
abstract: We report molecular and clinical findings in 13 patients with rare types of glycogen storage disease 1 (GSD1 non-a). Analysis of G6PT encoding a microsomal transporter protein has revealed mutations on both chromosomes in each case, four of which are novel. Diagnosis has been confirmed in three patients suspected of having GSD1 non-a without enzymatic studies involving liver biopsy, thus emphasising the advantage of G6PT mutation analysis for all GSD1 non-a patients.
authors.affiliation: Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria. Andreas.Janecke@uibk.ac.at
authors.forename: A R
authors.initials: AR
authors.lastname: Janecke
authors.forename: M
authors.initials: M
authors.lastname: Lindner
authors.forename: M
authors.initials: M
authors.lastname: Erdel
authors.forename: E
authors.initials: E
authors.lastname: Mayatepek
authors.forename: D
authors.initials: D
authors.lastname: Möslinger
authors.forename: T
authors.initials: T
authors.lastname: Podskarbi
authors.forename: F
authors.initials: F
authors.lastname: Fresser
authors.forename: S
authors.initials: S
authors.lastname: Stöckler-Ipsiroglu
authors.forename: G F
authors.initials: GF
authors.lastname: Hoffmann
authors.forename: G
authors.initials: G
authors.lastname: Utermann
mesh_terms: D000293:Adolescent; D017920:Antiporters; D002648:Child; D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11; D003424:Crohn Disease / Q000235:genetics; D005260:Female; D005953:Glycogen Storage Disease Type I / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009004:Monosaccharide Transport Proteins; D009154:Mutation; D009503:Neutropenia / Q000235:genetics; D010770:Phosphotransferases / Q000235:genetics*; D011596:Psychomotor Disorders / Q000235:genetics
chemical_list: D017920:Antiporters; D009004:Monosaccharide Transport Proteins; C503531:SLC37A4 protein, human; C111261:glucose 6-phosphate(transporter); D010770:Phosphotransferases