Glycogenosis type IB: possible membrane transport defect.
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.
D000328:Adult; D001693:Biological Transport, Active / Q000187:drug effects; D001786:Blood Glucose / Q000378:metabolism; D003840:Deoxycholic Acid / Q000494:pharmacology; D005260:Female; D005952:Glucose-6-Phosphatase / Q000378:metabolism; D005953:Glycogen Storage Disease Type I / Q000209:etiology* / Q000378:metabolism; D006801:Humans; D007773:Lactates / Q000097:blood; D008099:Liver / Q000187:drug effects / Q000201:enzymology
D001786:Blood Glucose; D007773:Lactates; D003840:Deoxycholic Acid; D005952:Glucose-6-Phosphatase