Mutation analysis in glycogen storage disease type 1 non-a

A R Janecke; M Lindner; M Erdel; E Mayatepek; D Möslinger; T Podskarbi; F Fresser; S Stöckler-Ipsiroglu; G F Hoffmann; G Utermann

doi:10.1007/s004390000371

Mutation analysis in glycogen storage disease type 1 non-a

Hum Genet. 2000 Sep;107(3):285-9. doi: 10.1007/s004390000371.

Authors

A R Janecke¹, M Lindner, M Erdel, E Mayatepek, D Möslinger, T Podskarbi, F Fresser, S Stöckler-Ipsiroglu, G F Hoffmann, G Utermann

Affiliation

¹ Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria. Andreas.Janecke@uibk.ac.at

PMID: 11071391
DOI: 10.1007/s004390000371

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.

MeSH terms

Adolescent
Antiporters
Child
Child, Preschool
Chromosomes, Human, Pair 11
Crohn Disease / genetics
Female
Glycogen Storage Disease Type I / genetics*
Growth Disorders / genetics
Humans
Infant
Male
Monosaccharide Transport Proteins
Mutation*
Neutropenia / genetics
Phosphotransferases / genetics*
Psychomotor Disorders / genetics

Substances

Antiporters
Monosaccharide Transport Proteins
SLC37A4 protein, human
glucose 6-phosphate(transporter)
Phosphotransferases