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: Sarar Mohamed, Muddathir H Hamad, Altaf A Kondkar, Khaled K Abu-Amero
• Journal: Saudi medical journal (Saudi Med J) Vol. 36 Issue 10 Pg. 1229-32 (Oct 2015) ISSN: 0379-5284 [Print] Saudi Arabia
• PMID: 26446336 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Ornithine Carbamoyltransferase

Topics

• Base Sequence
• Child, Preschool
• Hemizygote
• Humans
• Hyperammonemia (diagnosis, etiology, genetics)
• Male
• Ornithine Carbamoyltransferase (genetics)
• Ornithine Carbamoyltransferase Deficiency Disease (diagnosis, genetics)
• Sequence Deletion