source: The New England journal of medicine

year: 2021

authors: Kharbanda S,Dvorak CC

Hurler syndrome (mucopolysaccharidosis type I, Hurler variant [MPSIH]) is caused by autosomal recessive mutations in IDUA, leading to absent α-L-iduronidase (IDUA) expression. Deficient clearance of glycosaminoglycans (GAGs) leads to profound systemic manifestations, including neurocognitive impairment. IDUA can be endocytosed from the blood, and enzyme-replacement therapy is available.

However, the enzyme does not cross the blood–brain barrier, and it is therefore only a bridge to definitive treatment, which is best done at as young an age as possible (preferably <12 months and certainly <18 months).1,2 Until now, definitive treatment has been allogeneic hematopoietic-cell transplantation (HCT), because bone marrow–derived monocytes can migrate .

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