Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi / 中华医学遗传学杂志

ABSTRACT

Objective@#To determine the incidence and mutational types of fatty acid oxidation disorders (FAOD) in central-northern region of Guangxi.@*Methods@#A total of 62 953 neonates were screened for FAOD during December 2012 and December 2017. Acyl-carnitine profiling of neonatal blood sample was performed by tandem mass spectrometry using dry blood spots on a filter paper. The diagnosis of FAOD was confirmed by organic acid profiling of urea and genetic testing.@*Results@#Eighteen cases of FAOD were diagnosed among the 62 953 neonates. Among these, primary carnitine deficiency (PCD) was the most common type (n=13), which was followed by short-chain acyl-CoA dehydrogenase deficiency (SCADD) (n=2), medium- chain acyl-CoA dehydrogenase deficiency (MCADD) (n=1), multiple acyl-CoA dehydrogenase deficiency (MADD) (n=1), and carnitine palmitoyltransferaseⅡdeficiency (CPT ⅡD) (n=1). Genetic testing has revealed two previously unreported variants, i. e., c. 337G>A (p.Gly113Arg) of ACADS gene and c. 737G>T (p.Gly246Val) of ETFA gene.@*Conclusion@#PCD is the most common FAOD in central-northern Guangxi. Tandem mass spectrometry combined with genetic testing may facilitate early diagnosis of FAOD.