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Tandem mass spectrometry and genetic variant analysis of four neonates with very long chain acyl-coenzyme A dehydrogenase deficiency / 中华医学遗传学杂志
Article em Zh | WPRIM | ID: wpr-928401
Biblioteca responsável: WPRO
ABSTRACT
OBJECTIVE@#To analyze the clinical features and genetic variants in four neonates with very long chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency.@*METHODS@#Neonates with a tetradecenoylcarnitine (C14:1) concentration at above 0.4 μmol/L in newborn screening were recalled for re-testing. Four neonates were diagnosed with VLCAD deficiency by MS-MS and genetic testing, and their clinical features and genotypes were analyzed.@*RESULTS@#All cases had elevated blood C14:1, and the values of first recalls were all lower than the initial test. In 2 cases, the C14:1 had dropped to the normal range. 1 case has remained at above 1 μmol/L after the reduction, and the remainder one case was slightly decreased. In total eight variants of the ADACVL genes were detected among the four neonates, which included 5 missense variants and 3 novel variants (p.Met344Val, p.Ala416Val, c.1077+6T>A). No neonate showed salient clinical manifestations.@*CONCLUSION@#Above findings have enriched the spectrum of ADACVL gene mutations and provided a valuable reference for the screening and diagnosis of VLCAD deficiency.
Assuntos
Texto completo: 1 Índice: WPRIM Assunto principal: Testes Genéticos / Doenças Mitocondriais / Acil-CoA Desidrogenase / Acil-CoA Desidrogenase de Cadeia Longa / Espectrometria de Massas em Tandem / Síndrome Congênita de Insuficiência da Medula Óssea / Erros Inatos do Metabolismo Lipídico / Doenças Musculares Tipo de estudo: Prognostic_studies Limite: Humans / Newborn Idioma: Zh Revista: Chinese Journal of Medical Genetics Ano de publicação: 2022 Tipo de documento: Article
Texto completo: 1 Índice: WPRIM Assunto principal: Testes Genéticos / Doenças Mitocondriais / Acil-CoA Desidrogenase / Acil-CoA Desidrogenase de Cadeia Longa / Espectrometria de Massas em Tandem / Síndrome Congênita de Insuficiência da Medula Óssea / Erros Inatos do Metabolismo Lipídico / Doenças Musculares Tipo de estudo: Prognostic_studies Limite: Humans / Newborn Idioma: Zh Revista: Chinese Journal of Medical Genetics Ano de publicação: 2022 Tipo de documento: Article