Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia

Gene. 2013 Jan 25;513(2):297-300. doi: 10.1016/j.gene.2012.09.097. Epub 2012 Oct 9.

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Arabs / genetics
  • Consanguinity
  • Female
  • Humans
  • Isovaleryl-CoA Dehydrogenase / chemistry
  • Isovaleryl-CoA Dehydrogenase / deficiency
  • Isovaleryl-CoA Dehydrogenase / genetics*
  • Isovaleryl-CoA Dehydrogenase / metabolism
  • Male
  • Mutation*

Substances

  • Isovaleryl-CoA Dehydrogenase

Supplementary concepts

  • Acidemia, isovaleric