What this covers
Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of MPS I, caused by mutations in the IDUA gene and leading to progressive, life-threatening disease across many body systems. This review examines the open questions in managing it, from treatment choices to diagnosis and follow-up.
Key takeaways
- Allogeneic haematopoietic stem cell transplantation is currently the gold standard when children are diagnosed and treated before about 2 to 2.5 years of age, with success also depending on patient selection and the graft source and donor used.
- Enzyme replacement therapy with laronidase can improve patients' condition before transplantation and, when given around the time of transplant, can improve its outcome, though a residual disease burden often persists even after successful treatment.
- Better outcomes will depend on earlier, pre-symptomatic diagnosis, including through newborn screening, on new treatments and more sensitive biochemical markers, and on standardised, multidisciplinary follow-up at reference centres.
Why it matters
For now, the most practical route to earlier treatment is greater awareness of the disorder among primary care providers and paediatricians, so that children are referred promptly to a qualified specialist centre.
