Mass Spectrometry but not Fluorimetry Distinguishes Affected and Pseudodeficienies in Newborn Screening for Pompe Disease

Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.

BACKGROUND Newborn screening for deficiency in the lysosomal enzymes that cause Fabry, Gaucher, Krabbe, Niemann-Pick A/B, and Pompe diseases is warranted because treatment for these syndromes is now available or anticipated in the near feature. We describe a multiplex screening method for all five lysosomal enzymes that uses newborn-screening cards containing dried blood spots as the enzyme sou...

Comparison of tandem mass spectrometry to fluorimetry for newborn screening of LSDs

Sir while we have no issues with the data presented in the Letter to the Editor [1], we are compelled to give an alternative conclusion. The majority of newborn labs set their own screen cutoffs, and Illinois uses much higher cutoffs than Missouri. It is only meaningful to compare the number of below-cutoff enzyme activity samples with the use of equivalent cutoffs [2–4]. For example, for mucop...

Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement.

Both authors are members of the Pompe Disease Newborn Screening Working Group and have experience in newborn screening and in treating and caring for patients with Pompe disease; and both authors provided input and reviewed and approved the content for all articles of the supplement. DOI: https:// doi. org/ 10. 1542/ peds. 20160280B Accepted for publication Mar 8, 2017 Address correspondence to...

Diagnosing lysosomal storage diseases in a Brazilian non-newborn population by tandem mass spectrometry

OBJECTIVES High-throughput mass spectrometry methods have been developed to screen newborns for lysosomal storage disorders, allowing the implementation of newborn screening pilot studies in North America and Europe. It is currently feasible to diagnose Pompe, Fabry, Gaucher, Krabbe, and Niemann-Pick A/B diseases, as well as mucopolysaccharidosis I, by tandem mass spectrometry in dried blood sp...

Response to Gelb et al.: “Comparison of tandem mass spectrometry to fluorimetry for newborn screening of LSDs”