Patients with Pompe disease (PD) belonging to minority ethnic groups appear to have less access to healthcare, which could affect follow-up after positive PD screening, according to a recently published study in Molecular Genetics and Metabolism.

PD can present itself in different phenotypes, mainly infantile onset PD (IOPD) and late-onset PD (LOPD), with the latter considered a more benign presentation, the researchers noted. Although the median age of onset of late-onset PD is 28 years of age, newborn screening has shown that the onset is highly variable and can appear during early childhood, they added.

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Enzyme replacement therapy has significantly improved survival and quality of life in patients with PD, and abundant evidence has shown that early initiation of treatment is vital to improve outcomes, the authors continued.

“Early detection and initiation of treatment with enzyme replacement therapy (ERT) have been shown to improve cardiac function and prolong survival in IOPD, along with improvement or stabilization in muscular and respiratory function in LOPD,” the authors wrote.

Therefore, PD was added to the Recommended Uniform Screening Panel in 2015. The main focus of newborn screening is ruling out infantile onset PD. However, late-onset PD is also detectable through screening methods. All cases deemed at risk after newborn screening should receive medical follow-up; studies have shown that the proportion of lost follow-up cases is higher in the late-onset PD group.

The authors aimed to assess whether the proportion of lost to follow-up cases was higher in late-onset PD and ethnic minority groups. The study included data from patients diagnosed with PD in Minnesota over a 4-year period.

Results showed that over 30% of patients with late-onset PD were lost to follow-up and that more than 66% of these subgroups were part of a minority group.

“This emphasizes the disparity in access to health care among specific demographics, as well as the importance of a primary care provider’s early involvement in educating these families,” the authors concluded.


Pillai NR, Fabie NA, Kaye TV, et al. Disparities in late and lost: pediatricians’ role in following Pompe disease identified by newborn screening. Mol Genet Metab. Published online June 25, 2023. doi:10.1016/j.ymgme.2023.107633