Format

Send to:

Choose Destination
See comment in PubMed Commons below
Mol Genet Metab. 2006 Jun;88(2):166-70. Epub 2006 Feb 20.

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

Author information

  • 1Metabolic Service and Newborn Screening Laboratory, Genetic Health Services Victoria, Melbourne, Australia. avihu.boneh@ghsv.org.au

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.

PMID:
16488171
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Write to the Help Desk