scholarly journals Very long‐chain acyl‐CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics

JIMD Reports ◽  
2022 ◽  
Author(s):  
David Olsson ◽  
Michela Barbaro ◽  
Charlotte Haglind ◽  
Maria Halldin ◽  
Svetlana Lajic ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Newborn Screening ◽  
Dehydrogenase Deficiency ◽  
Clinical Symptoms ◽  
Chain Acyl ◽  
Swedish Cohort ◽  
Long Chain

scholarly journals Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program

2021 ◽  
Vol 12 ◽  
Author(s):  
Ziga I. Remec ◽  
Urh Groselj ◽  
Ana Drole Torkar ◽  
Mojca Zerjav Tansek ◽  
Vanja Cuk ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Pilot Study ◽  
Genetic Analysis ◽  
Newborn Screening ◽  
Dehydrogenase Deficiency ◽  
Screening Program ◽  
Dried Blood Spots ◽  
Expanded Newborn Screening ◽  
Chain Acyl ◽  
Long Chain

Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a rare autosomal recessive disorder of fatty acid metabolism with a variable presentation. The aim of this study was to describe five patients with VLCADD diagnosed through the pilot study and expanded newborn screening (NBS) program that started in 2018 in Slovenia. Four patients were diagnosed through the expanded NBS program with tandem mass spectrometry; one patient was previously diagnosed in a pilot study preceding the NBS implementation. Confirmatory testing consisted of acylcarnitines analysis in dried blood spots, organic acids profiling in urine, genetic analysis of ACADVL gene, and enzyme activity determination in lymphocytes or fibroblasts. Four newborns with specific elevation of acylcarnitines diagnostic for VLCADD and disease-specific acylcarnitines ratios (C14:1, C14, C14:2, C14:1/C2, C14:1/C16) were confirmed with genetic testing: all were compound heterozygotes, two of them had one previously unreported ACDVL gene variant each (NM_000018.3) c.1538C > G; (NP_000009) p.(Ala513Gly) and c.661A > G; p.(Ser221Gly), respectively. In addition, one patient diagnosed in the pilot study also had a specific elevation of acylcarnitines. Subsequent ACDVL genetic analysis confirmed compound heterozygosity. In agreement with the diagnosis, enzyme activity was reduced in five patients tested. In seven other newborns with positive screening results, only single allele variants were found in the ACDVL gene, so the diagnosis was not confirmed. Among these, two variants were novel, c.416T > C and c.1046C > A, respectively (p.Leu139Pro and p.Ala349Glu). In the first 2 years of the expanded NBS program in Slovenia altogether 30,000 newborns were screened. We diagnosed four cases of VLCADD. The estimated VLCADD incidence was 1:7,500 which was much higher than that of the medium-chain acyl-CoA dehydrogenase deficiency (MCADD) cases in the same period. Our study also provided one of the first descriptions of ACADVL variants in Central-Southeastern Europe and reported on 4 novel variants.

Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening

2014 ◽  
Vol 111 (4) ◽  
pp. 484-492 ◽  
Author(s):  
J. Lawrence Merritt ◽  
Sverre Vedal ◽  
Jose E. Abdenur ◽  
Sylvia M. Au ◽  
Bruce A. Barshop ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Dehydrogenase Deficiency ◽  
Chain Acyl ◽  
Long Chain

Diagnosis of Very Long Chain Acyl-Dehydrogenase Deficiency From an Infant's Newborn Screening Card

PEDIATRICS ◽  
2001 ◽  
Vol 108 (1) ◽  
pp. e19-e19 ◽  
Author(s):  
J. C. Wood ◽  
M. J. Magera ◽  
P. Rinaldo ◽  
M. R. Seashore ◽  
A. W. Strauss ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Dehydrogenase Deficiency ◽  
Chain Acyl ◽  
Long Chain

A near-miss: very long chain acyl-CoA dehydrogenase deficiency with normal primary markers in the initial well-timed newborn screening specimen

2011 ◽  
Vol 158 (1) ◽  
pp. 172 ◽  
Author(s):  
Inderneel Sahai ◽  
Joyce C. Bailey ◽  
Roger B. Eaton ◽  
Thomas Zytkovicz ◽  
David J. Harris
Keyword(s):  
Newborn Screening ◽  
Dehydrogenase Deficiency ◽  
Near Miss ◽  
Chain Acyl ◽  
Long Chain
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