Glycogenosis type IB: possible membrane transport defect.

Abstract

We have described a 20-month-old child with type IB glycogen storage disease, based on clinical and biochemical manifestations. Functional testing data were similar to those found in glucose-6-phosphatase deficiency, but in vitro studies showed normal hepatic glucose-6-phosphatase activity. Disruption of membranes with deoxycholic acid was followed by an increase in enzyme activity compared to a control liver tissue, suggesting "latency" of enzyme. We suggest that this patient had glycogen storage type IB and that this disorder may represent a specific glucose-6-phosphate transport defect.

• Authors: W A Skaug, L L Warford, J M Figueroa, M D Morris, H K Schedewie, R H Fiser, M J Elders
• Journal: Southern medical journal (South Med J) Vol. 74 Issue 6 Pg. 761-4 (Jun 1981) ISSN: 0038-4348 [Print] United States
• PMID: 6264632 (Publication Type: Case Reports, Journal Article)

Chemical References

• Blood Glucose
• Lactates
• Deoxycholic Acid
• Glucose-6-Phosphatase

Topics

• Adult
• Biological Transport, Active (drug effects)
• Blood Glucose (metabolism)
• Deoxycholic Acid (pharmacology)
• Female
• Glucose-6-Phosphatase (metabolism)
• Glycogen Storage Disease Type I (etiology, metabolism)
• Humans
• Lactates (blood)
• Liver (drug effects, enzymology)