Newborn screening for fatty acid oxidation disorders: epidemiological and genetic findings in Southeastern China.

ABSTRACT: Fatty acid oxidation disorders (FAODs) are a group of rare diseases caused by deficiencies in the function of enzymes or proteins involved in the mitochondrial oxidation of fatty acids. This study aimed to analyze the incidence, disease spectrum, gene profile, and clinical phenotypes of FAODs in the southeastern coastal region of China. Between January 2016 and June 2024, acylcarnitine, genetic mutation, and clinical manifestation data were collected from patients diagnosed with FAOD through newborn screening. A total of 210,913 newborns were screened, identifying 36 cases of FAODs, with an overall incidence of 1 in 5,859. Primary carnitine deficiency (PCD) was the most prevalent FAOD, with an incidence of 1 in 9,587, followed by multiple acyl-CoA dehydrogenase deficiency (MADD). Moreover,

SUBMITTER: Zhang S 

PROVIDER: S-EPMC12553155 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature