Researchers from Brazil conducted a pilot study of newborn screening for 6 lysosomal diseases including Pompe disease using tandem mass spectrometry. This is the first pilot study of newborn screening in this country using this approach for the analysis of these lysosomal diseases. 

Apart from Pompe disease, the other lysosomal diseases that were analyzed were acid sphingomyelinase deficiency, Fabry disease, Gaucher disease, Krabbe disease, and mucopolysaccharidosis type 1.

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The study was published in the journal Molecular Genetics and Metabolism last month.

The researchers concluded that using enzyme assay as the first-tier test gives an acceptably low number of positive results that require second or third-tier testing.

The team analyzed dried blood spot samples obtained from 20,066 newborns. 

Of these, 15 samples had the activity of 1 enzyme below the cutoff. The team then evaluated these samples for specific biomarkers by ultra-performance liquid chromatography-tandem mass spectrometry as the second tier. They analyzed them using a next-generation sequencing multigene panel as the third tier.

This led to the identification of 2 newborns as having Fabry disease, and 5 newborns as having pathogenic variants or variants of unknown significance in the acid α-glucosidase (GAA) gene, which is mutated in Pompe disease.

“The possibility to run all tests in a [dried blood spot] sample makes this protocol applicable to large-scale [newborn screening] programs,” the researchers concluded.

Lysosomal diseases including Pompe disease are progressive diseases that can be life-threatening if left untreated. There are several treatments available for these diseases. However, because they usually show no symptoms at birth, it is difficult to diagnose them and start treatment. Newborn screening for these diseases, therefore, holds great value.

Currently, Pompe disease is universally screened for in the majority (64%) of US states.


Kubaski F, Sousa I, Amorim T, et al. Pilot study of newborn screening for six lysosomal diseases in Brazil. Mol Genet Metab. Published online July 13, 2023. doi:10.1016/j.ymgme.2023.107654