The Birth Prevalence of Mucopolysaccharidosis Types I, II, III, IVA, VI, and VII in the Republic of Kazakhstan Between 1984 and 2023

Tulebayeva A. Mukhambetova G. Sharipova M. Tylki-Szymanska A.
March 2025 Multidisciplinary Digital Publishing Institute (MDPI)

Diagnostics
2025 #15 Issue 6

Objectives: Mucopolysaccharidoses (MPSs) are a group of a rare inherited lysosomal storage diseases caused by a deficiency or complete lack of lysosomal enzymes participating in glycosaminoglycan (GAG) degradation, which leads to multisystemic impairment and early mortality. This study aimed to determine the birth prevalence of MPS type I, II, III, IVA, VI, and VII in the Republic of Kazakhstan. Methods: Retrospective epidemiological calculations were carried out on all enzymatically and genetically confirmed MPS cases diagnosed between 1984 and 2023 in the Republic of Kazakhstan. Birth prevalence was calculated by dividing the number of patients diagnosed with MPS by the total number of live births in the same period, recalculated for every 100,000 live births. Results: The overall birth prevalence of MPS was 0.77 per 100,000 live births. The highest birth prevalence was MPS II with 0.36 (47% of all diagnosed MPS types), followed by MPS I with 0.16 (21%), MPS VI with 0.12 (16%), MPS IVA with 0.09 (11%), MPS IIIB with 0.03 (4%), and MPS VII (which is the rarest type) with 0.007 (1%). Conclusions: The most common MPS type in the Republic of Kazakhstan is MPS II (Hunter syndrome).

birth prevalence , mucopolysaccharidoses , the Republic of Kazakhstan

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Paediatric Department, Kazakh National Medical University, Almaty, 050012, Kazakhstan
Scientific Center of the Pediatrics and Pediatric Surgery JSC, Almaty, 050060, Kazakhstan
The Children’s Memorial Health Institute, Warsaw, 04-730, Poland

Paediatric Department
Scientific Center of the Pediatrics and Pediatric Surgery JSC
The Children’s Memorial Health Institute

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