A 5 year old boy presents with hepatomegaly, hypoglycaemia & ketosis. The diagnosis is

Patients with type I GSD may present in the neonatal period with hypoglycemia and lactic acidosis. These children often have doll-like faces with fat cheeks, relatively thin extremities, short stature and a protuberant abdomen that is due to massive epatomegaly; the kidneys are also enlarged, whereas the spleen  and heart are normal. The biochemical hallmarks of the Type Ia GSD (von Gierke’s) disease are hypoglycemia, lactic acidosis, hyperuricemia and hyperlipidemia.