Findings of an article published in medical journal The Lancet show that an analysis of dried blood spots from around 35,000 babies in Austria has demonstrated that lysosomal storage disorders are more common than previously thought, even though they remain rare. The finding raises questions in terms of potential screening practicality and its related cost.

In analyzing 34,736 samples from newborn babies the authors discovered 15 cases of lysosomal storage disorders, with the most frequent mutations being Fabry’s disease with 1 per 3,859 births, followed by Pompe’s disease with 1 per 8,684 births, and Gaucher’s disease with 1 per 17,368 births, resulting in a higher than expected combined incidence of 1 per 2,315 birth, compared to estimates of 1 in 7,700 previously.

The authors claim that their study demonstrates the technical feasibility of identifying babies with lysosomal storage disorders, and severe early-onset disease in neonatal screening programs, and point out that early diagnosis is important for timely treatment.

Read more on the Medical News Today website.