Lethal neonatal hyperammonemia in severe ornithine transcarbamylase (OTC) deficiency compounded by large hepatic portosystemic shunt

J Inherit Metab Dis. 2017 Jan;40(1):159-160. doi: 10.1007/s10545-016-9985-2. Epub 2016 Nov 10.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acidosis, Lactic / etiology
  • Autopsy
  • Fatal Outcome
  • Humans
  • Hyperammonemia / etiology*
  • Infant, Newborn
  • Liver / diagnostic imaging*
  • Liver / pathology
  • Male
  • Ornithine Carbamoyltransferase Deficiency Disease / etiology*
  • Ornithine Carbamoyltransferase Deficiency Disease / genetics
  • Portal Vein / abnormalities*
  • Portal Vein / diagnostic imaging
  • Portal Vein / pathology
  • Ultrasonography, Doppler, Color
  • Vascular Malformations / diagnostic imaging*
  • Vascular Malformations / pathology

Supplementary concepts

  • Patent Ductus Venosus