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Glutaric Aciduria (GA I) is a commonly reported organicaciduria in India and the spectrum of mutations in the GCDH gene were notreported in the Indian population. Mutation analysis was done in twelvepatients with biochemically confirmed cases of GA I. Glutaryl-CoA dehydrogenase(GCDH) gene was sequenced in these families and identified seven novelmutations in twelve families. The mutations were mostly missense. Homozygousmutations were seen in 9 families, one heterozygous mutation and a benign SNPin two families. No phenotype genotype correlation could be made except inthose families with a benign SNP and heterozygous mutation where the phenotypewas milder and response to treatment was good( we need to be objective inmaking this statement).Genetic evaluation is useful in counseling families withregard to prenatal diagnosis and reproductive options. Mutation analysis is auseful tool in the absence of availability of enzyme assay for  GA I in India.

glutaric aciduria, genetics,