1. Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia.
- Author
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Kaya N, Colak D, Al-Bakheet A, Al-Younes B, Tulbah S, Daghestani M, Al-Mutairi F, Al-Amoudi M, Al-Odaib A, and Al-Aqeel AI
- Subjects
- Adolescent, Arabs genetics, Consanguinity, Female, Humans, Isovaleryl-CoA Dehydrogenase chemistry, Isovaleryl-CoA Dehydrogenase deficiency, Isovaleryl-CoA Dehydrogenase metabolism, Male, Amino Acid Metabolism, Inborn Errors genetics, Isovaleryl-CoA Dehydrogenase genetics, Mutation
- Abstract
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 mutation by using various bioinformatics prediction algorithms and discussed the likely mechanism of the disease caused by the mutation., (Copyright © 2012 Elsevier B.V. All rights reserved.)
- Published
- 2013
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