RT Journal Article
SR Electronic
T1 A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 1229
OP 1232
DO 10.15537/smj.2015.10.12127
VO 36
IS 10
A1 Mohamed, Sarar
A1 Hamad, Muddathir H.
A1 Kondkar, Altaf A.
A1 Abu-Amero, Khaled K.
YR 2015
UL http://smj.org.sa/content/36/10/1229.abstract
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.