Mucopolysaccharidosis Type I

Diagnostics (Basel). 2020 Mar; 10(3): 161.
Published online 2020 Mar 16. doi: 10.3390/diagnostics10030161

Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Ursula da Silveira Matte, Dafne D. Horovitz, Anneliese Lopes Barth, Guilherme Baldo, Filippo Vairo, and Roberto Giugliani

One century after the report of the first cases of MPS I, many advances in the understanding of this complex disease have been achieved. Several tools have also been developed for its diagnosis, including biochemical and genetic techniques that enable patient diagnosis, carrier identification, and prenatal diagnosis. The first successful therapeutic intervention (bone marrow transplantation) was reported in 1980, and in 2003, intravenous replacement therapy with a recombinant enzyme (laronidase) became available. Although these therapeutic approaches transform the natural history of the disease, several problems remain, with unmet needs related to the CNS manifestations of the disease, the skeletal abnormalities, the heart valve problems, and the corneal clouding, among others. 

Read the full article here

get updates

connect