Objective: To explore the genetic basis for a neonate affected with Glutaric aciduria type I (GA-I).
Methods: Targeted capture and high-throughput sequencing was carried out for the proband and her parents. Candidate variants were verified by Sanger sequencing.
Results: 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.
Conclusion: The compound heterozygous variants of the GCDH gene probably underlay the GA-I in the patient.