The scientific and practical conference held at Kazakh National Medical University named after S.D. Asfendiyarov served as a platform for discussing rare diseases in pediatrics. As part of the program, a report titled “Alpha-mannosidosis: a rare hereditary pathology in pediatric practice” focused on Alpha-mannosidosis. The speakers reviewed the clinical manifestations of the disease, its progressive course, and the challenges of early diagnosis due to nonspecific symptoms and similarities with other pediatric conditions.

It was noted that timely diagnosis of alpha-mannosidosis is crucial for patient management and treatment strategy. Current approaches include the use of genetic testing, multidisciplinary care, and the implementation of modern therapeutic options. The discussion of this topic reflects the growing interest of the medical community in orphan diseases and the development of personalized medicine in pediatrics.