Ontology highlight
ABSTRACT:
SUBMITTER: Tibelius A
PROVIDER: S-EPMC10742628 | biostudies-literature | 2023 Dec
REPOSITORIES: biostudies-literature
Tibelius Alexandra A Evers Christina C Oeser Sabrina S Rinke Isabelle I Jauch Anna A Hinderhofer Katrin K
Genes 20231214 12
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 (<i>GCDH</i>) 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 <i>GCDH</i> variants using the Leiden Ope ...[more]