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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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| Publicado no: | Saudi Med J |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Saudi Medical Journal
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4621731/ https://ncbi.nlm.nih.gov/pubmed/26446336 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15537/smj.2015.10.12127 |
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