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
Chinese Journal of Medical Genetics
; (6): 276-281, 2022.
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.
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Testes Genéticos
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Doenças Mitocondriais
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Acil-CoA Desidrogenase
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Acil-CoA Desidrogenase de Cadeia Longa
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Espectrometria de Massas em Tandem
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Síndrome Congênita de Insuficiência da Medula Óssea
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Erros Inatos do Metabolismo Lipídico
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Doenças Musculares
Tipo de estudo:
Prognostic_studies
Limite:
Humans
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Newborn
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2022
Tipo de documento:
Article