A novel two‐nucleotide deletion in the ornithine transcarbamylase gene causing fatal hyperammonia in early pregnancy
U Schimanski, D Krieger, M Horn, W Stremmel, B Wermuth, L Theilmann – 1 December 1996 – 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.