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
Chinese Journal of Medical Genetics
; (6): 1067-1072, 2019.
Article
em Zh
| WPRIM
| ID: wpr-776745
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WPRO
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 palmitoyltransferase II deficiency (CPT II D) (n=1). Genetic testing has revealed two previously unreported variants, i.e., c.337G to A (p.Gly113Arg) of ACADS gene and c.737G TO 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.
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Índice:
WPRIM
Assunto principal:
Sangue
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Carnitina
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Carnitina O-Palmitoiltransferase
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China
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Triagem Neonatal
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Flavoproteínas Transferidoras de Elétrons
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Acil-CoA Desidrogenase
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Diagnóstico
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Espectrometria de Massas em Tandem
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Deficiência Múltipla de Acil Coenzima A Desidrogenase
Tipo de estudo:
Diagnostic_studies
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Screening_studies
Limite:
Humans
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Newborn
País/Região como assunto:
Asia
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Article