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Newborn screening for lysosomal storage disorders

Authors

  • Dietrich Matern

    1. Biochemical Genetics Laboratory, Departments of Laboratory Medicine and Pathology, Pediatric and Adolescent Medicine, and Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN, USA
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Correspondence
D Matern, Biochemical Genetics Laboratory, Departments of Laboratory Medicine and Pathology, Pediatric and Adolescent Medicine, and Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN, USA. Tel: +1 507 538 1581 | Fax: +1 507 266 2888 | E-mail: matern@mayo.edu

Abstract

Newborn screening is a public health programme aimed at identifying treatable conditions in pre-symptomatic newborns to avoid premature mortality, morbidity and disabilities. With the advent of successful treatment options for an increasing number of lysosomal storage disorders (LSDs), such as enzyme replacement or bone marrow transplantation, inclusion of these disorders into newborn screening programmes seems reasonable. However, the success of these programmes depends on the availability of testing methods that are suitable for population screening, have high sensitivity and a low false-positive rate. In recent years, two methods have been proposed for newborn screening of LSDs, which enable assessment of more than one LSD from a single blood spot sample. One applies tandem mass spectrometry, the other microbead array technology. Now, prospective studies are needed to determine the most effective approach to newborn screening that will identify those patients who require treatment.

Conclusion: With the advent of high-throughput assays for the detection of LSDs, newborn screening for these disorders may soon become a reality. However, careful prospective studies are required to optimize this process before it is used on a larger scale.

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