Lethal neonatal hyperammonemia in severe ornithine transcarbamylase (OTC) deficiency compounded by large hepatic portosystemic shunt.
Division of Neonatology, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA. lauren.beard@childrenscolorado.org.
Lauren
0000-0002-7106-287X
L
Beard
Division of Neonatology, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA.
Erica
E
Wymore
Division of Pediatric Radiology, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA.
Laura
L
Fenton
Division of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA.
Curtis R
CR
Coughlin
Division of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA.
James D
JD
Weisfeld-Adams
D000140:Acidosis, Lactic / Q000209:etiology; D001344:Autopsy; D017809:Fatal Outcome; D006801:Humans; D022124:Hyperammonemia / Q000209:etiology*; D007231:Infant, Newborn; D008099:Liver / Q000000981:diagnostic imaging* / Q000473:pathology; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000209:etiology* / Q000235:genetics; D011169:Portal Vein / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D018615:Ultrasonography, Doppler, Color; D054079:Vascular Malformations / Q000000981:diagnostic imaging* / Q000473:pathology