A novel two-nucleotide deletion in the ornithine transcarbamylase gene causing fatal hyperammonia in early pregnancy

Hepatology : Official Journal of the American Association for the Study of Liver Diseases
U SchimanskiL Theilmann

Abstract

Ornithine transcarbamylase (OTC) deficiency shows X-linked inheritance. Typically, symptomatic females (who constitute 15%-20% of all carriers) have markedly reduced enzyme activity and show first symptoms in late infancy or early childhood. Here we present the case of a previously asymptomatic 24-year-old woman who died of severe hyperammonemia associated with orotic aciduria but normal OTC activity in the fourth month of pregnancy. DNA analysis revealed a novel mutation in form of the deletion of two nucleotides (T892, G893) in exon 9 of the OTC gene, leading to a frame shift and an aberrant gene product. We suggest that OTC deficiency should be suspected in any patient who presents with hyperammonia in the presence of otherwise normal liver function.

Citations

Jun 20, 2013·Journal of Inherited Metabolic Disease·Corinne M RüeggerJohannes Häberle
Jan 25, 2005·BJOG : an International Journal of Obstetrics and Gynaecology·F J SpronsenJ J H M Erwich
Dec 22, 2000·Archives of Disease in Childhood·J E Wraith
Sep 7, 2004·Journal of Clinical Psychopharmacology·Mariposa McCall, James A Bourgeois
Jan 17, 2002·Human Mutation·Mendel TuchmanMichael G Lynch
Jul 9, 2011·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·Ozlem CelikOzer Acbay
Oct 16, 2007·Chest·Alison S Clay, Bryan E Hainline
Jun 24, 2010·La Revue de médecine interne·D BrajonP Kaminsky
Nov 23, 2007·Revue neurologique·F Maillot, P Crenn
Jul 22, 2004·American Journal of Medical Genetics. Part a·Murray A PotterDonald T Whelan
Jun 21, 2006·Human Mutation·Saori YamaguchiMendel Tuchman
Aug 1, 2015·Advances in Neonatal Care : Official Journal of the National Association of Neonatal Nurses·Nicholas Ah MewKimberly A Chapman
Jun 20, 2015·Best Practice & Research. Clinical Obstetrics & Gynaecology·Elaine Murphy

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