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.
► We report the longest follow-up of patients with IVA in Saudi Arabia. ► We detail first clinical, biochemical and molecular analyses of Saudi IVA cases ► We report a novel transversion (p.G362V) first time in a consanguineous Saudi family. ► Pathogenicity of p.G362V was predicted by various bioinformatics algorithms. ► Out of 487,164 newborns screened in KSA, 15 cases were IVA between 2005 and 2011.