Large-scale newborn screening for organic acidemias in Quanzhou, China: a 10-year retrospective observational study.

ABSTRACT: Organic acidemias (OADs) are a group of congenital metabolic disorders whose incidence, disease spectrum, and genetic profiles differ greatly across countries. This study aimed to determine the characteristics of OADs in Quanzhou, China. A total of 693,797 newborns were screened for OADs from 2014 to 2023, and the acylcarnitine and genetic profiles of patients with OADs were analysed. Sixty-nine patients were confirmed to have OADs, with an overall incidence of 1/10,055 newborns. Seven types of OADs were identified, of which 18 were 2-methylbutyryl-CoA dehydrogenase deficiency (MBAD), 18 were 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD), 13 were glutaric acidemia type 1 (GA-1), nine were isobutyryl-CoA dehydrogenase deficiency (IBDD), five were isovaleric acidemia (IVA), four were

SUBMITTER: Lin Y 

PROVIDER: S-EPMC12368017 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature