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
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Genetic Testing
/
Mitochondrial Diseases
/
Acyl-CoA Dehydrogenase
/
Acyl-CoA Dehydrogenase, Long-Chain
/
Tandem Mass Spectrometry
/
Congenital Bone Marrow Failure Syndromes
/
Lipid Metabolism, Inborn Errors
/
Muscular Diseases
Type of study:
Prognostic study
Limits:
Humans
/
Infant, Newborn
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2022
Type:
Article
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