Lethal neonatal hyperammonemia in severe ornithine transcarbamylase (OTC) deficiency compounded by large hepatic portosystemic shuntJan 1, 2017·Lauren Beard,Erica Wymore,Laura Fenton,Curtis R. Coughlin,James D. Weisfeld-Adams· 0 min read Cite DOITypeJournal articlePublicationJ Inherit Metab DisLast updated on Dec 30, 2025Acidosis Lactic Autopsy Fatal Outcome Humans Hyperammonemia Infant Newborn Liver Male Ornithine Carbamoyltransferase Deficiency Disease Portal Vein Ultrasonography Doppler Color Vascular Malformations ← Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly Feb 1, 2017The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT Jan 1, 2017 →