MCQ 3 A 5 year old child has massive liver enlargement and severe persistent hypoglycemia and ketosis. which of the following disease classes should be suspected?

A. Diabetes
B. Glycogen storage disease
C. Lysosomal storage disorder
D. Mucopolysaccharidoses
E. Urea Cycle defect

 The Correct answer is B: Glycogen storage disease

The combination of persistent hypoglycemia and ketosis in a child with an enlarged liver should suggest the possibility of a glycogen storage disorder. The most common of theses diseases is Von Gierke's disease (Type 1 Glycogen storage disease) in which glucose-6-phosphatase is usually the deficient enzyme. Other features of this disorder include failure to thrive, hyperuricemia and hyperlipidemia.