Biological marker Lyso-GL1 in Gaucher disease type 1 as a key to successful diagnosis, monitoring of clinical course and treatment of an orphan disease

Gaucher disease type 1 (GD 1) is a hereditary disease caused by a deficiency of the enzyme glucocerebrosidase, which leads to the accumulation of glucocerebroside in cells, especially in macrophages. The disease affects the spleen, liver, bones and bone marrow. One of the key diagnostic markers is glucosylsphingosine (Lyso-GL1), which reflects the accumulation of glucocerebroside and indicates the presence of GD1. Lyso-GL1 is important for early diagnosis, monitoring disease progression and assessing the effectiveness of therapy. A decrease in the level of this biomarker during treatment indicates its success, which allows adjusting drug doses and predicting the patient's response to therapy. Aim - to determine the importance of studying the Lyso-GL1 biomarker in the diagnosis and monitoring of GD1. Material and methods. Lyso-GL1 levels were analyzed in 27 children with GD1 aged 11 months to 21 years from 2014 to 2024 to assess the effectiveness of treatment, optimize the results of enzyme replacement therapy with imiglucerase, and improve the individual approach. Results. Lyso-GL1 levels can be a prognostic indicator of the risk of developing organ damage or complications. Patients with higher Lyso-GL1 levels have a higher risk of developing hematopoietic system failure (anemia, thrombocytopenia), serious damage to both internal organs (enlarged liver and spleen), and bones (presence of bone pain and bone crises), which indicates the prevalence of this marker not only for monitoring therapy, but also for predicting the course of the disease. Conclusions. Lyso-GL1 level is an important and reliable tool for the diagnosis and treatment of GD1. Its use in clinical practice significantly affects the accuracy of diagnosis, allows for individualization of treatment and promotes long-term monitoring without the need for frequent invasive procedures. The study was performed in accordance with the principles of the Declaration of Helsinki. The study protocol was approved by the Bioethics and Deontology Committee of the institution specified in the work. Informed consent of patients was obtained for the study. The authors declare that there is no conflict of interest.