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Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.

Abstract
The purpose of this study was to identify the mutations in the glutaryl-CoA dehydrogenase gene (GCDH) in ten Cypriot patients with Glutaric aciduria type I (GAI).

Molecular analysis of the GCDH gene was performed by direct sequencing of the patients’ genomic DNA. In silico tools were applied to predict the effect of the novel variants on the structure and function of the protein.
All disease alleles were characterized (mutation detection rate 100%). Five missense mutations were identified: c.192G>T (p.Glu64Asp) and c.803G>T (p.Gly268Val), which are novel, and three previously described mutations, c.1123T>C (p.Cys375Arg), c.1204C>T (p.Arg402Trp) and c.1286C>T (p.Thr429Met).