Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review.

What was studied

This review looked at late-onset Pompe disease found by newborn screening. It focused on Taiwan and the United States. These have long-term follow-up. It covered signs, genotypes, markers, treatment and follow-up. PubMed was searched up to January 2026. 18 studies were included. Results were put together in words.

What they found

A common splice site variant was not seen in Taiwan. IVS1 homozygosity was frequent in US cohorts. It was linked with milder disease. Compound heterozygotes had more variable features. Some had raised markers and early motor signs. In Taiwan, 8 of 39 cases started enzyme therapy. This was between 1.6 months and 3 years. Some US infants improved after early therapy. Many others stayed stable under watch.

What it means for patients

The authors say newborn screening has widened understanding of new phenotypes. Some infants with early signs may benefit from timely enzyme therapy. They say future work should stress long follow-up and clearer start rules.

Why it is not certain yet

The authors name heterogeneous follow-up. They name a lack of unified diagnostic criteria. They name limited long-term data. No risk of bias rating was done.

Source

Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review.

We restate facts from the source record in our own words. The original wording belongs to its publisher.