A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia.

ABSTRACT: 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.

SUBMITTER: Mohamed S 

PROVIDER: S-EPMC4621731 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature