Newborn Screening for Mucopolysaccharidosis Type I: Past, Present and Future

Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder caused by deficiency of the hydrolase α-L-iduronidase. MPS characterized broad range disease manifestations. This includes devastating neurocognitive and bone manifestations short life expectancy in severely affected patients. Neurocognitive are typically limited more attenuated I, but patients may still suffer from severe somatic Severe primarily treated with hematopoietic stem cell transplantation (HSCT) enzyme replacement therapy. HSCT should be initiated before irreversible manifestations, preferably 9 months, up to 2 years. Early diagnosis challenging at best, newborn screening (NBS) has already been several countries diagnose treat early. article summarizes history, benefits, methods challenges that have addressed NBS can used most effectively.