A 5 year old child with hepatomegaly, hypoglycemia, and growth failure is admitted in the hospital for fuher evaluations. These signs are pathognomonic of:
Correct Answer: Glycogen storage disease
Description: Different enzyme defects in glycogen storage diseases affect its biosynthesis and degradation. The hepatic forms of the glycogenoses cause growth failure, hepatomegaly, and severe fasting hypoglycemia. They include, Glucose-6-phosphatase deficiency (type I; von Gierke disease) Debrancher enzyme deficiency (type III) Hepatic phosphorylase deficiency (type VI) Phosphorylase kinase deficiency (type IX) Ref: Thomas J.A., Van Hove J.L. (2012). Chapter 36. Inborn Errors of Metabolism. In W.W. Hay, Jr., M.J. Levin, R.R. Deterding, J.J. Ross, J.M. Sondheimer (Eds), CURRENT Diagnosis & Treatment: Pediatrics, 21e.
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