An Unusual Case of Glycogen Storage Disease
Glycogen Storage Disease Type I (G.S.D.I) is characterised by a block in the final common pathway of glucose liberation from the liver leading to abnormal deposition of liver glycogen. The pertinent metabolic features include fasting hypoglycemia, lactic acidemia and increased free fatty acids. A severe tendency towards acidosis, hyperuricemia, hypertriglyceridemia with an abnormal pre- β band are frequently observed. Glucagon administration does not provoke hyperglycemic response, but causes a further rise in blood lactic acid. No hyperglycemic response can be elicited after galactose, fructose or glycerol administration.
KeywordsUric Acid Glycogen Storage Disease Glycogen Storage Disease Type Glucagon Stimulation Test Blood Lactic Acid
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