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

A Boneh, B S Andresen, N Gregersen, M Ibrahim, N Tzanakos, H Peters, J Yaplito-Lee, J J Pitt

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Abstrakt

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.

OriginalsprogEngelsk
TidsskriftMolecular Genetics and Metabolism
Vol/bind88
Udgave nummer2
Sider (fra-til)166-70
Antal sider5
ISSN1096-7192
DOI
StatusUdgivet - jun. 2006

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