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Case comparison of 3 infants diagnosed with MPS I by newborn screen and impact of secondary screening by Christina L. Grant; KeriAnn W. Kuperman; Allison Shaw is a Medicine article available to read on EtoBox.

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Mucopolysaccharidosis type I (MPS-I) is a lysosomal disease affecting multiple organ systems including brain, liver, heart, skeletal, and soft tissues. Early therapy can stabilize neurocognitive function in patients with neuronopathic MPS-I making early identification and treatment essential. Newborn screening (NBS) for MPS I was recommended by the RUSP in 2016. Our institution is an NBS referral center for 3 jurisdictions: District of Columbia, Virginia, and Maryland. In all jurisdictions, newborn screening involves enzyme analysis of alpha-iduronidase (IDUA). Two jurisdictions automatically perform molecular sequencing on samples with low enzyme, while the third requires repeat samples showing deficient enzyme activity, then refers without second tier screening. In jurisdictions with second tier testing, age at initial referral is typically b5 weeks, while the jurisdiction without second tier testing typically refers at a later age and requires additional testing after referral. Over a 6-month period we received positive MPS I diagnoses from each jurisdiction. Here we outline how variations in NBS affected time to diagnosis and discuss individual patient presentations and managem

Who reads Case comparison of 3 infants diagnosed with MPS I by newborn screen and impact of secondary screening?

Author

Christina L. Grant; KeriAnn W. Kuperman; Allison Shaw

Publisher

Elsevier BV

Published

2023

Language

EN

Field

Medicine (Health Sciences)