Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia.
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.
Department of Genetics, King Faisal Specialist Hospital and Research Centre, Saudi Arabia.
Namik
N
Kaya
Dilek
D
Colak
Albandary
A
Al-Bakheet
Banan
B
Al-Younes
Sahar
S
Tulbah
Maha
M
Daghestani
Fuad
F
Al-Mutairi
Mohammed
M
Al-Amoudi
Ali
A
Al-Odaib
Aida I
AI
Al-Aqeel
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D018912:Arabs / Q000235:genetics; D003241:Consanguinity; D005260:Female; D006801:Humans; D050769:Isovaleryl-CoA Dehydrogenase / Q000737:chemistry / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D008297:Male; D009154:Mutation
D050769:Isovaleryl-CoA Dehydrogenase