Child with hyperammonemia, later develops pancreatitis and basal ganglia stroke. He may have:
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.
Homocystinuria
Maple syrup urine disorder
Methylmalonic acidemia
Tyrosinemia