Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I – Study from South India

摘要: Background: Glutaric aciduria type I is an autosomal recessive organic acid disorder. The primary defect the deficiency of Glutaryl-CoA dehydrogenase (EC number 1.3.99.7) enzyme that involved in catabolic pathways amino acids L-lysine, L-hydroxylysine, and L-tryptophan. It a treatable neuro-metabolic Early diagnosis treatment helps preventing brain damage. Methods: gene (GCDH) was sequenced to identify disease causing mutations by direct sequencing all exons twelve patients who were biochemically confirmed with GA I. Results: We identified eleven which nine are homozygous mutations, one heterozygous two synonymous mutations. Among four p.Q162R, p.P286S, p.W225X families p.V410M novel. A milder clinical presentation observed those either or benign SNP. Multiple sequence alignment (MSA) GCDH its homologues revealed novel not tolerated protein structure function. Conclusions: present study indicates genetic heterogeneity among South Indian population. Genetic analysis useful prenatal prevention. Mutation tool absence non-availability assay