Diagnosis of type 1a and type 1c glycogen storage diseases in adults.
The hepatic glucose-6-phosphatase system was studied with a novel microanalytical technique in adult patients undergoing liver biopsy. 4 patients were diagnosed as having type 1 glycogen storage disease (GSD). 3 of these patients, who had hypoglycaemic symptoms, had variations of type 1a GSD, which is caused by a defect in the hepatic microsomal glucose-6-phosphatase enzyme. The fourth, with hepatomegaly and no hypoglycaemic symptoms, had a normal glucose-6-phosphatase enzyme but a defect in the hepatic microsomal phosphate/pyrophosphate translocase T2; this is the first report of an adult with type 1c GSD. Adult type 1 GSD should be considered in patients with unresolved hypoglycaemic symptoms and/or unresolved hepatomegaly.
D000328:Adult; D001707:Biopsy, Needle; D005260:Female; D005951:Glucose Tolerance Test; D005952:Glucose-6-Phosphatase / Q000032:analysis; D006008:Glycogen Storage Disease / Q000175:diagnosis*; D005953:Glycogen Storage Disease Type I / Q000175:diagnosis*; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis*; D006801:Humans; D008297:Male; D008832:Microchemistry; D008862:Microsomes, Liver / Q000032:analysis / Q000201:enzymology / Q000473:pathology; D008875:Middle Aged; D010744:Phosphoric Monoester Hydrolases / Q000032:analysis
C023553:mannose-6-phosphatase; D010744:Phosphoric Monoester Hydrolases; D005952:Glucose-6-Phosphatase