TY - JOUR T1 - A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia JF - Saudi Medical Journal JO - Saudi Med J SP - 1229 LP - 1232 DO - 10.15537/smj.2015.10.12127 VL - 36 IS - 10 AU - Sarar Mohamed AU - Muddathir H. Hamad AU - Altaf A. Kondkar AU - Khaled K. Abu-Amero Y1 - 2015/10/01 UR - http://smj.org.sa/content/36/10/1229.abstract N2 - 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. ER -