Diligence in patients with mucopolysaccharidosis

Abstract

Introduction: mucopolysaccharidosis type I or Hurler syndrome is a rare genetic metabolic disorder caused by deficiency of the enzyme alpha-L-iduronidase required to break down mucopolysaccharides. This deficiency leads to progressive accumulation of glycosaminoglycans in lysosomes, resulting in multisystem dysfunction. Objective: to determine the behavior of mucopolysaccharidosis type I.Methods: the methodology used is the systematic review based on components of the PRISMA 2020 method, following diligence guidelines in patients with MPS type I that involved the application of a rigorous approach in the identification and selection of relevant studies, extraction and synthesis of data in a methodological manner from digital platforms of scientific database. Results: the review conducted according to the PRISMA 2020 methodology, highlights that since MPS type I is a rare, enzymatic, chronic and irreversible disease, it occurs in apparently healthy children whose family history may or may not have the condition. Treatment consists of two modalities: ERT with laronidase and hematopoietic cell transplantation (HCT) with limited benefits and potential risks, hence the need for ongoing evaluations and multidisciplinary patient follow-up.Conclusions: these findings support the importance of timely diagnosis to avoid underdiagnosis, therapeutic intervention and nursing care to prevent serious complications and improve quality of life. As a rare disease, continued research is needed to improve the understanding and management of MPS.