What this covers
Mucopolysaccharidosis type I (MPS I) is a complex inherited disorder, first described in patients a century ago. This overview traces the many advances made since then in understanding, diagnosing and treating the condition.
Key takeaways
- A range of biochemical and genetic tools now allows diagnosis of patients, identification of carriers, and prenatal diagnosis.
- Treatment has moved from the first successful bone marrow transplantation, reported in 1980, to intravenous enzyme replacement therapy with the recombinant enzyme laronidase, available since 2003.
- Although these therapies have transformed the natural history of the disease, unmet needs remain, particularly around the central nervous system, skeletal abnormalities, heart valve problems and corneal clouding.
Why it matters
Recognising where current treatments still fall short helps focus attention on the aspects of MPS I that most need better answers.
