Child with hyperammonemia, later develops pancreatitis and basal ganglia stroke. He may have:: (A) Homocystinuria, (B) Maple syrup urine disorder, (C) Methylmalonic acidemia, (D) Tyrosinemia
Answer is C. Children with severe methylmalonic acidemia present with acute, life-threatening metabolic acidosis, hyperammonemia, and bone marrow depression in early infancy or with metabolic acidosis, vomiting, and failure to thrive during the first few months of life. Most patients with severe disease have mild or moderate mental retardation. Late complications include pancreatitis, cardiomyopathy, and basal ganglia stroke, and in methylmalonic aciduria, interstitial nephritis. Ref: Thomas J.A., Van Hove J.L. (2012). Chapter 36. Inborn Errors of Metabolism. In W.W. Hay, Jr., M.J. Levin, R.R. Deterding, J.J. Ross, J.M. Sondheimer (Eds), CURRENT Diagnosis & Treatment: Pediatrics, 21e.