This is a real-world medical entrance exam question, please give the true answer based on the question and selection. Topic name: None, Subject name: Pediatrics
[{'content': "A child with recurrent hypoglycemic attack and hepatomegaly is likely to have – \nSelect and explain. \nA. Von Gierke's disease, B. Neonatal diabetes, C. Neonatal hepatitis, D. Galactosemia", 'role': 'user'}, {'content': "Answer: A \nExplanation: Recurrent hypoglycemic attack with hepatomegaly is seen in Type I glycogen storage disease (Von Gierke disease).\nGlycogen storage diseases \n\nGlycogen storage diseases result from a hereditary deficiency of one of the enzymes involved in the synthesis or sequential degradation of glycogen.\nClinical features depend on the type of enzyme deficiency and organ involvement.\nGlycogen storage diseases can be divided into:-\n\n1)\xa0\xa0 Hepatic form (Liver glycogenolysis)\n\nThe liver is the key player in glycogen metabolism.\nIt contains enzymes that synthesize glycogen for storage and ultimately break it down into free glucose, which is then released into the blood.\nSo, An inherited deficiency of hepatic enzymes that are involved in glycogen metabolism leads to\n\ni)\xa0\xa0Storage of glycogen in liver →\xa0Hepatomegaly.\nii) Reduction in blood glucose →\xa0Hypoglycemia.\n\nExamples of liver glycogenoses are -\n\n\nType I glycogenosis\xa0→ Glucose - 6 - phosphatase deficiency (Von Gierke disease).\nType III glycogenosis → Debranching enzyme def\nType IV glycogenesis → Branching enzyme def\nType VI glycogenosis → Liver phosphorylase def\n\n2) Myopathic form (Muscular glycogenoses)\n\nIn skeletal muscle, as opposed to the liver, glycogen is used predominantly as a source of energy.\n\n\nThis is derived from glycolysis, which leads ultimately to the formation of lactate.\nSo, enzyme deficiency leads to -\n\n\nGlycogen deposition in muscle\nMuscle cramp after exercise\nThe exercise-induced rise in blood lactate levels owing to block in glycolysis\nThere may be myoglobinuria\n\n\nExamples are -\n\n\nType V glycogenosis → phosphorylase deficiency (McArdle disease).\nType VII glycogenosis → phosphofructokinase def\n\n3) Miscellaneous types\n\nAssociated with glycogen storage in many organs and death in early life.\nExamples -\n\ni)\xa0\xa0\xa0 Type II glycogenosis → Acid maltase deficiency (Pompe's disease)", 'role': 'assistant'}]