PT  - JOURNAL ARTICLE
AU  - Sarar Mohamed
AU  - Muddathir H. Hamad
AU  - Altaf A. Kondkar
AU  - Khaled K. Abu-Amero
TI  - A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia
AID  - 10.15537/smj.2015.10.12127
DP  - 2015 Oct 01
TA  - Saudi Medical Journal
PG  - 1229--1232
VI  - 36
IP  - 10
4099  - http://smj.org.sa/content/36/10/1229.short
4100  - http://smj.org.sa/content/36/10/1229.full
SO  - Saudi Med J2015 Oct 01; 36
AB  - 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.