CES identified compound heterozygous mutations (p.R128Q and p.N291Kfs ∗ 41) in the GCDH gene (OMIM: 608801), then the patient was diagnosed with glutaric aciduria type I. She was immediately treated by a low-lysine diet and carnitine supplementation according to the guidelines for the management of glutaric aciduria type I (Heringer et al., 2010) and were considered for further long-term follow-up as indicated. This evidence concerns the gene GCDH and glutaryl-CoA dehydrogenase deficiency.