In a recent study by Tchan et al. (2025), Gaucher disease was identified as one of the less common lysosomal storage disorders among adults, accounting for 2.8% of such cases. The study, which surveyed 15 adult metabolic centers, found that the total number of patients with inborn errors of metabolism (IEM) had increased by 34% to 9,651 since the previous report. This highlights a growing recognition of these conditions in adults and underscores the importance of specialized care for this population.
The findings emphasize that many patients with conditions like Gaucher disease are diagnosed in adulthood, with over 40% of the cases in the study being identified at this later stage. This late diagnosis stresses the need for more healthcare professionals trained in adult metabolic disorders to ensure timely and appropriate management of these complex conditions.
