Article
Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia.
Gene - 25 Jan 2013
Kaya Namik, Colak Dilek, Al-Bakheet Albandary, Al-Younes Banan, Tulbah Sahar, Daghestani Maha, Al-Mutairi Fuad, Al-Amoudi Mohammed, Al-Odaib Ali, Al-Aqeel Aida I
Abstract excerpt
Isovaleric acidemia (IVA) is a rare autosomal recessive disorder caused by a deficiency of isovaleryl-CoA dehydrogenase encoded by IVD gene. In this case study we report the first Saudi IVA patients from a consanguineous family with a novel transversion (p.G362V) and briefly discuss likely phenotype-genotype correlation of the disease in the Saudi population. We explored the functional consequences of the...
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