Diagnosis of type 1a and type 1c glycogen storage diseases in adults.

Abstract

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.

• Authors: A Burchell, R T Jung, C C Lang, W Bennet, A N Shepherd
• Journal: Lancet (London, England) (Lancet) Vol. 1 Issue 8541 Pg. 1059-62 (May 09 1987) ISSN: 0140-6736 [Print] England
• PMID: 2883397 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• mannose-6-phosphatase
• Phosphoric Monoester Hydrolases
• Glucose-6-Phosphatase

Topics

• Adult
• Biopsy, Needle
• Female
• Glucose Tolerance Test
• Glucose-6-Phosphatase (analysis)
• Glycogen Storage Disease (diagnosis)
• Glycogen Storage Disease Type I (diagnosis)
• Glycogen Storage Disease Type II (diagnosis)
• Humans
• Male
• Microchemistry
• Microsomes, Liver (analysis, enzymology, pathology)
• Middle Aged
• Phosphoric Monoester Hydrolases (analysis)