A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia

Authors

• Sarar Mohamed, From the Department of Pediatrics (Mohamed, Hamad), and the Ophthalmic Genetics Laboratory (Kondkar, Abu-Amero), Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia
• Muddathir H. Hamad, From the Department of Pediatrics (Mohamed, Hamad), and the Ophthalmic Genetics Laboratory (Kondkar, Abu-Amero), Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia
• Altaf A. Kondkar, From the Department of Pediatrics (Mohamed, Hamad), and the Ophthalmic Genetics Laboratory (Kondkar, Abu-Amero), Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia
• Khaled K. Abu-Amero, From the Department of Pediatrics (Mohamed, Hamad), and the Ophthalmic Genetics Laboratory (Kondkar, Abu-Amero), Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia

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.

Article Type

Case Report

First Page

1229

Last Page

1232

Recommended Citation

Mohamed, Sarar; Hamad, Muddathir H.; Kondkar, Altaf A.; and Abu-Amero, Khaled K. (2015) "A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia," Saudi Medical Journal: Vol. 36: Iss. 10, Article 16.
DOI: https://doi.org/10.15537/smj.2015.10.12127