Published online October 1, 2004
PEDIATRICS Vol. 114 No. 4 October 2004, pp. 909-916 (doi:10.1542/peds.2004-0583)
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Newborn Screening for Lysosomal Storage Disorders: Clinical Evaluation of a Two-Tier Strategy

Peter J. Meikle, PhD*,{ddagger}, Enzo Ranieri, BScHons*,{ddagger}, Henrik Simonsen, MD, PhD§, Tina Rozaklis, BscHons*, Steve L. Ramsay, PhD*, Phillip D. Whitfield, PhD*, Maria Fuller, PhD*,{ddagger}, Ernst Christensen, MscEng||, Flemming Skovby, MD|| and John J. Hopwood, PhD*,{ddagger}

* Lysosomal Diseases Research Unit, Department of Genetic Medicine, Women’s and Children’s Hospital, North Adelaide, South Australia, Australia
{ddagger} Department of Paediatrics, University of Adelaide, Adelaide, South Australia, Australia
§ Department of Clinical Biochemistry, Statens Serum Institut, Copenhagen, Denmark
|| Department of Clinical Genetics, National University Hospital, Copenhagen, Denmark

Objective. To evaluate the use of protein markers using immune-quantification assays and of metabolite markers using tandem mass spectrometry for the identification, at birth, of individuals who have a lysosomal storage disorder.

Methods. A retrospective analysis was conducted of Guthrie cards that were collected from newborns in Denmark during the period 1982–1997. Patients whose lysosomal storage disorder (LSD; 47 representing 12 disorders) was diagnosed in Denmark during the period 1982–1997 were selected, and their Guthrie cards were retrieved from storage. Control cards (227) were retrieved from the same period. Additional control cards (273) were collected from the South Australian Screening Centre (Australia).

Results. From 2 protein and 94 metabolite markers, 15 were selected and evaluated for their use in the identification of LSDs. Glycosphingolipid and oligosaccharide markers showed 100% sensitivity and specificity for the identification of Fabry disease, {alpha}-mannosidosis, mucopolysaccharidosis (MPS) IVA, MPS IIIA, Tay-Sachs disease, and I-cell disease. Lower sensitivities were observed for Gaucher disease and sialidosis. No useful markers were identified for Krabbe disease, MPS II, Pompe disease, and Sandhoff disease. The protein markers LAMP-1 and saposin C were not able to differentiate individuals who had an LSD from the control population.

Conclusions. Newborn screening for selected LSDs is possible with current technology. However, additional development is required to provide a broad coverage of disorders in a single, viable program.

Key Words: genetic disease • mass spectrometry • oligosaccharide • glycolipid • protein marker

Abbreviations: LSD, lysosomal storage disorder • MPS, mucopolysaccharidosis • GC, glucosylceramide • LC, lactosylceramide • CTH, ceramide trihexoside • CV, coefficient of variation

Accepted Mar 22, 2004.


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