A 5 year old boy presents with hepatomegaly, hypoglycaemia & ketosis. The diagnosis is
Correct Answer: Glycogen storage disorder
Description: 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.
Category:
Biochemistry
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