Project Description

Mucopolysaccharidosis Type I (MPS I) is a rare genetic condition that affects about one in every 100,000 newborns nationwide. This disease causes a buildup of a specific kind of sugar in the lysosomes of cells, and in its most severe form—known as Hurler’s Syndrome—usually causes death before the age of 10. This study will demonstrate that screening for MPS I can be done as successfully and as reliably as screening for other newborn diseases. The fact that we were able to identify one infant with severe MPS I, and facilitate the proper medical intervention, shows the potential benefits of screening for this rare disease on a nationwide basis.

Project Partners

The Eunice Kennedy Shriver National Institute of Child Health and Human Development

Project Open

Open

Project Services

Countries