REVIEW Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States

Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is an X-linked condition caused by pathogenic variants in the iduronate-2-sulfatase gene. The resulting reduced activity of the enzyme iduronate-2-sulfatase leads to accumulation of glycosaminoglycans that can progressively affect multiple organ systems and impair neurologic development. In 2006, the US Food and Drug Administration approved idursulfase for intravenous enzyme replacement therapy for MPS II. After the data suggesting that early treatment is beneficial became available, 2 states, Illinois and Missouri, implemented MPS II newborn screening. Following a recom-mendation of the Advisory Committee on Heritable Disorders in Newborns and Children in February 2022, in August 2022, the US Secretary of Health and Human Services added MPS II to the Recommended Uniform Screening Panel, a list of conditions recommended for newborn screening. MPS II was added to the Recommended Uniform Screening Panel after a systematic evidence review reported the accuracy of screening, the benefit of presymptomatic treatment compared with usual case detection, and the feasibility of implementing MPS II newborn screening. This manuscript summarizes the findings of the evidence review that informed the Advisory Committee's decision.& COPY; 2022 by American College of Medical Genetics and Genomics. Published by Elsevier Inc.

Automated summary

Mucopolysaccharidosis type II, also known as Hunter syndrome, is an X-linked genetic disorder caused by pathogenic variants in the iduronate-2-sulfatase gene. This leads to enzyme activity reduction and accumulation of glycosaminoglycans, resulting in multi-organ system involvement and impaired neurologic development. After evidence showed the benefit of early treatment, MPS II newborn screening was implemented in Illinois and Missouri.