title: 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.
authors.affiliation: Department of Pediatrics (39), College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia. E-mail. sararmohamed@hotmail.com.
authors.forename: Sarar
authors.initials: S
authors.lastname: Mohamed
authors.forename: Muddathir H
authors.initials: MH
authors.lastname: Hamad
authors.forename: Altaf A
authors.initials: AA
authors.lastname: Kondkar
authors.forename: Khaled K
authors.initials: KK
authors.lastname: Abu-Amero
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D057898:Hemizygote; D006801:Humans; D022124:Hyperammonemia / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D008297:Male; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000175:diagnosis / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D009954:Ornithine Carbamoyltransferase