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

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jan 10;39(1):39-42. doi: 10.3760/cma.j.cn511374-20200705-00494.
[Article in Chinese]

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors* / genetics
  • Brain Diseases, Metabolic* / genetics
  • Child
  • Female
  • Glutaryl-CoA Dehydrogenase / genetics
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Infant, Newborn
  • Mutation

Substances

  • Glutaryl-CoA Dehydrogenase