An infant is admitted to the hospital with symptoms of severe hypoglycemia and l
ID: 207834 • Letter: A
Question
An infant is admitted to the hospital with symptoms of severe hypoglycemia and liver enlargement. Upon running tests, it is discovered: a) that there are elevated levels of glycogen in the liver b) upon feeding glucose, blood glucose is elevated as expected c)the hypoglycemia cannot be relieved by injecting glucagon or epinephrine. d) the liver glycogen structure is normal indicating that the glycogen synthetic pathway is not affected. e) the enzymes involved in glycogen breakdown and synthesis are within normal limits. Try to come up with an explanation of what is going on with the infant? Explain what each test result could mean. Which enzyme is defective? What kind of disorder is it? (points are for your explanation not accuracy) (5 points)Explanation / Answer
Glycogen phosphorylase dehydrogenase deficiency . This enzyme is responsible for production of glycogen 6 phosphatase. Glycogen 6 phosphatase breaks phosphate from glycogen 6 phosphate and releases glucose. As this enzyme is defective glycogen gets accumulated in liver and this causes liver enlargement. As glycogen cannot be broken down , glucagon effect will not be there even when administered. The structure of glycogen is not affected because the enzymes involved in synthesis are normal. Glucose should be given in small amounts in regular intervals or else the glucose which is in increased amounts gets converted to glycogen causing increase in hepatomegaly. Hence this must be von Gierke's disease.