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

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Abstract

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. © 2005 Elsevier Inc. All rights reserved.

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Boneh, A., Andresen, B. S., Gregersen, N., Ibrahim, M., Tzanakos, N., Peters, H., … Pitt, J. J. (2006). VLCAD deficiency: Pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. Molecular Genetics and Metabolism, 88(2), 166–170. https://doi.org/10.1016/j.ymgme.2005.12.012

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