Glutaric Acidemia Type I- A Case Report in an Egyptian patient

Abstract

To characterize an Egyptian patient with glutaric acidemia type I (GA I) and to identify the causative mutation(s) that may be responsible for the disease phenotype. biochemical analysis was carried out using gas chromatography/mass spectrometry on the patient’s dried blood spot, and the patient’s organic acids were measured in dried blood and a urine sample using MS/MS and GC/MS, respectively. Total RNA was isolated from the patient’s peripheral blood, and the synthesized cDNA was bi-directionally sequenced The patient exhibited clinical features compatible with a diagnosis of GA I. The abnormal elevation of organic acids in the urine supported the presence of glutaryl-CoA dehydrogenase deficiency. The mutation analysis on the cDNA of the GCDH gene revealed Nucleotide Mutation: c.1204C>T, P.Arg402Trp in exon 11. This mutation has been described as one of the most severe and common mutations that account for about 20% of the mutations in Caucasians. It affects the binding site of the enzyme leading to the drastic pathological effect of the mutation.