Mutation analysis in glycogen storage disease type 1 non-a

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 micro somal transporter protein has revealed mutations on both chromosomes in eac h case, four of which are novel. Diagnosis has been confirmed in three pati ents suspected of having GSD1 non-a without enzymatic studies involving liv er biopsy, thus emphasising the advantage of G6PT mutation analysis for all GSD1 non-a patients.