%0 Journal Article %A Sarar Mohamed %A Muddathir H. Hamad %A Altaf A. Kondkar %A Khaled K. Abu-Amero %T A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia %D 2015 %R 10.15537/smj.2015.10.12127 %J Saudi Medical Journal %P 1229-1232 %V 36 %N 10 %X We report a 3-year-old Saudi boy with recurrent episodes of vomiting, poor feeding, and altered mental status accompanied by an intermittent mild hyperammonemia, and a large elevation of urinary orotic acid. Sanger sequencing of the ornithine transcarbamylase (OTC) gene revealed a novel hemizygous deletion at the fourth nucleotide of intron 4 (c.386+4delT) in the proband and his asymptomatic mother. This novel mutation in the OTC gene is responsible for the late-onset phenotype of OTC deficiency. %U https://smj.org.sa/content/smj/36/10/1229.full.pdf