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Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update
Barbara K Burton1,2, Rachel Hickey1, Lauren Hitchins1
1Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; rahickey@luriechildrens.org (R.H.); lhitchins@luriechildrens.org (L.H.).
Insights
Newborn screening for Mucopolysaccharidosis type II (MPS II, Hunter syndrome) effectively identified affected infants. This approach offers an acceptable false positive rate for early diagnosis of this rare genetic disorder.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare, progressive lysosomal storage disorder causing significant morbidity and premature death.
- Early diagnosis of MPS II is often delayed, despite the availability of effective enzyme replacement therapy.
- Newborn screening is a promising strategy for early detection of MPS II.
Purpose of the Study:
- To update the findings of a newborn screening program for MPS II.
- To evaluate the effectiveness and accuracy of newborn screening for MPS II in a larger cohort.
Main Methods:
- Iduronate-2-sulfatase (I2S) activity was measured in dried blood spots from 339,269 infants.
- A positive screen was defined as I2S activity ≤10% of the daily median.
- Diagnostic confirmation was performed for infants with positive or borderline screening results.
Main Results:
- Three infants were diagnosed with MPS II.
- Twenty-five infants were diagnosed with I2S pseudodeficiency.
- The screening identified affected infants with an acceptable rate of false positives.
Conclusions:
- Newborn screening is effective for identifying infants with MPS II in the studied population.
- The natural history and clinical features of MPS II make it a suitable target for newborn screening.
- Early detection through newborn screening can facilitate timely intervention with enzyme replacement therapy.
Abstract:
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare, progressive multisystemic lysosomal storage disorder with significant morbidity and premature mortality. Infants with MPS II develop signs and symptoms of the disorder in the early years of life, yet diagnostic delays are very common. Enzyme replacement therapy is an effective treatment option. It has been shown to prolong survival and improve or stabilize many somatic manifestations of the disorder. Our initial experience with newborn screening in 162,000 infants was previously reported. Here, we update that experience with the findings in 339,269 infants. Measurement of iduronate-2-sulfatase (I2S) activity was performed on dried blood spot samples submitted for other newborn screening disorders. A positive screen was defined as I2S activity less than or equal to 10% of the daily median. In this series, 28 infants had a positive screening test result, and four other infants had a borderline result. Three positive diagnoses of MPS II were established, and 25 were diagnosed as having I2S pseudodeficiency. The natural history and the clinical features of MPS II make it an ideal target for newborn screening. Newborn screening was effective in identifying affected infants in our population with an acceptable rate of false positive results.
