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.
Artículo
en Chino
| WPRIM
| ID: wpr-928401
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 (C141) 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 C141, and the values of first recalls were all lower than the initial test. In 2 cases, the C141 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Pruebas Genéticas
/
Enfermedades Mitocondriales
/
Acil-CoA Deshidrogenasa
/
Acil-CoA Deshidrogenasa de Cadena Larga
/
Espectrometría de Masas en Tándem
/
Síndromes Congénitos de Insuficiencia de la Médula Ósea
/
Errores Innatos del Metabolismo Lipídico
/
Enfermedades Musculares
Tipo de estudio:
Estudio pronóstico
Límite:
Humanos
/
Recién Nacido
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2022
Tipo del documento:
Artículo
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