A 5 years old boy presents with hepatomegaly, hypoglycaemia, ketosis. The diagnosis is:
Mucopolysaccharidosis
Glycogen storage disorder
Lipopolysaccharidosis
Diabetes mellitus
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
Carbohydrates