[Analysis of GCDH gene variant in a child with Glutaric aciduria type I].

To explore the genetic basis for a neonate affected with Glutaric aciduria type I (GA-I).Targeted capture and high-throughput sequencing was carried out for the proband and her parents. Candidate variants were verified by Sanger sequencing.The proband was found to harbor compound heterozygous variants of the GCDH gene, namely c.523G>A and c.1190T>C, which was derived from her father and mother, respectively.The compound heterozygous variants of the GCDH gene probably underlay the GA-I in the patient.