A 5 year old child with hepatomegaly, hypoglycemia, and growth failure is admitted in the hospital for fuher evaluations. These signs are pathognomonic of:
DM
Glycogen storage disease
Lipid disorder
All of the above
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.