New approaches to the diagnosis and treatment of mucopolysaccharidos type I in children: A clinical case of Hurler syndrome in a young child
https://doi.org/10.31146/2949-4664-apps-3-1-52-60
Abstract
Hurler syndrome is the most severe form of mucopolysaccharidosis type I (MPS I). This is a metabolic genetic disorder caused by mutations in the IDUA gene, which encodes the α-L-iduronidase enzyme. Despite its rarity, timely diagnosis is critical. Current treatments for MPS I include enzyme replacement therapy (ERT) and allogeneic hematopoietic stem cell transplantation (HSCT). Intravenous ERT, such as laronidase, although being widely used, exhibits limited effectiveness due to its inability to cross the blood–brain barrier, thus failing to halt neurological deterioration. HSCT remains the gold standard, particularly when performed before age 2, prior to developing severe clinical manifestations. Early HSCT allows better preservation of cognitive functions and mitigation of somatic symptoms, although carrying risks of complications and not guaranteeing complete recovery. These limitations underscore the need for innovative strategies, including improved early screening methods and genetic engineering technologies. Gene therapy (GT) is a promising approach, having the potential for sustained enzyme production to address the underlying deficiency.
About the Authors
A. N. Dakuko
Omsk State Medical University;
Children’s Clinical Hospital
Russian Federation
Russian Federation
A. Y. Soboleva
Omsk State Medical University
Russian Federation
Russian Federation
E. B. Pavlinova
Omsk State Medical University
Russian Federation
Russian Federation
E. S. Sokolova
Children’s Clinical Hospital
Russian Federation
Russian Federation
A. G. Kungurtseva
Children’s Clinical Hospital
Russian Federation
Russian Federation
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For citations:
Dakuko A.N., Soboleva A.Y., Pavlinova E.B., Sokolova E.S., Kungurtseva A.G. New approaches to the diagnosis and treatment of mucopolysaccharidos type I in children: A clinical case of Hurler syndrome in a young child. Archives of Pediatrics and Pediatric Surgery. 2025;3(1):53-61. (In Russ.) https://doi.org/10.31146/2949-4664-apps-3-1-52-60
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