A 5 years old boy presents with hepatomegaly, hypoglycaemia, ketosis. The diagnosis is:
Ans. B. Glycogen Storage Disorder(Ref: Nelson 20e Chapter 715 Defects in metabolism of Carbohydrates)Patients with type IGSD may present in the neonatal period with hypoglycemia and lactic acidosisThese children often have doll-like faces with fat cheeks, relatively thin extremities, short stature, and a protuberant abdomen that is due to massive hepatomegaly; 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
Mucopolysaccharidosis
Glycogen storage disorder
Lipopolysaccharidosis
Diabetes mellitus
Carbohydrates