VLCAD deficiency: Pitfalls in newborn screening and confirmation of diagnosis by mutation analysis

  • Boneh A
  • Andresen B
  • Gregersen N
 et al. 
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We diagnosed six newborn babies with very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) through newborn screening in three years in Victoria (prevalence rate: 1:31,500). We identified seven known and two new mutations in our patients (2/6 homozygotes; 4/6 compound heterozygotes). Blood samples taken at age 48-72 h were diagnostic whereas repeat samples at an older age were normal in 4/6 babies. Urine analysis was normal in 5/5. We conclude that the timing of blood sampling for newborn screening is important and that it is important to perform mutation analysis to avoid false-negative diagnoses of VLCADD in asymptomatic newborn babies. In view of the emerging genotype-phenotype correlation in this disorder, the information derived from mutational analysis can be helpful in designing the appropriate follow-up and therapeutic regime for these patients.

Author-supplied keywords

  • Fatty acid oxidation
  • Mutation
  • Newborn screening
  • Tandem mass spectrometry
  • VLCAD deficiency (VLCADD)
  • Very long-chain fatty acids

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  • A. Boneh

  • B.S. Andresen

  • N. Gregersen

  • M. Ibrahim

  • N. Tzanakos

  • H. Peters

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