Clinical and laboratory features of hepatic enzyme deficiencies of glycogen/glucose metabolism in children

Enzyme deficiency	Lactic acid	Uric acid	Ketosis	Serum lipids	Response to glucagon	Clinical features
Glycogen synthase (GSD 0)	↑*	↑	+	↑	↓	Normal liver size
						Neonatal onset
						Severe fasting hypoglycemia, but postprandial hyperglycemia and lactic acidosis
Glucose-6-phosphatase (GSD I)	↑	↑	+	↑	↓	Hepatomegaly
						Neonatal onset
						Severe fasting hypoglycemia
						Some patients have neutropenia, platelet dysfunction, kidney disease, or hypertension
Glycogen debrancher (GSD III)	Normal or ↑	Normal	+	Normal or ↑	Normal 2 hours after glucose meal, but absent after fast	Hepatomegaly
						Onset in infancy
						Mild fasting hypoglycemia
						May have cardiac or skeletal muscle manifestations (eg, elevated CK)
						May have elevated RBC glycogen
Hepatic phosphorylase (GSD VI)	Normal	Normal	+	Normal or ↑	Usually normal, but variable	Hepatomegaly
						Onset in early childhood
						Mild fasting hypoglycemia
Hepatic phosphorylase b kinase	Normal	Normal or ↑	+	Normal or ↑	Normal	Hepatomegaly
						Onset in early childhood
						Mild fasting hypoglycemia
						X-linked inheritance

GSD: glycogen storage disease; CK: creatine kinase; RBC: red blood cell; ↑: increased; ↓: decreased; +: present.
* Postprandial.

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