A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia

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 d...

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Bibliographic Details
Published in:Saudi medical journal 2015-10, Vol.36 (10), p.1229-1232
Main Authors: Mohamed, Sarar, Hamad, Muddathir H, Kondkar, Altaf A, Abu-Amero, Khaled K
Format: Article
Language:English
Subjects:
Base Sequence
Case Report
Child, Preschool
DNA sequencing
Genes
Genetic aspects
Hemizygote
Humans
Hyperammonemia - diagnosis
Hyperammonemia - etiology
Hyperammonemia - genetics
Male
Nonprescription drugs
Ornithine
Ornithine Carbamoyltransferase - genetics
Ornithine Carbamoyltransferase Deficiency Disease - diagnosis
Ornithine Carbamoyltransferase Deficiency Disease - genetics
Resveratrol
Sequence Deletion
Urea
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Summary: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.
ISSN:0379-5284
1658-3175
DOI:10.15537/smj.2015.10.12127