Compilation of Genotype and Phenotype Data in GCDH-LOVD for Variant Classification and Further Application.

ABSTRACT: Glutaric aciduria type 1 (GA-1) is a rare but treatable autosomal-recessive neurometabolic disorder of lysin metabolism caused by biallelic pathogenic variants in glutaryl-CoA dehydrogenase gene (GCDH) that lead to deficiency of GCDH protein. Without treatment, this enzyme defect causes a neurological phenotype characterized by movement disorder and cognitive impairment. Based on a comprehensive literature search, we established a large dataset of GCDH variants using the Leiden Open Variation Database (LOVD) to summarize the known genotypes and the clinical and biochemical phenotypes associated with GA-1. With these data, we developed a GCDH-specific variation classification framework based on American College of Medical Genetics and Genomics and the Association for Mo

SUBMITTER: Tibelius A 

PROVIDER: S-EPMC10742628 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature