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 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.
Janecke
A R
AR
Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria. Andreas.Janecke@uibk.ac.at
Lindner
M
M
Erdel
M
M
Mayatepek
E
E
Möslinger
D
D
Podskarbi
T
T
Fresser
F
F
Stöckler-Ipsiroglu
S
S
Hoffmann
G F
GF
Utermann
G
G
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
D017920:Antiporters; D009004:Monosaccharide Transport Proteins; C503531:SLC37A4 protein, human; C111261:glucose 6-phosphate(transporter); D010770:Phosphotransferases