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Full-Text Articles in Medicine and Health Sciences
A Roadmap For Potential Improvement Of Newborn Screening For Inherited Metabolic Diseases Following Recent Developments And Successful Applications Of Bivariate Normal Limits For Pre-Symptomatic Detection Of Mps I, Pompe Disease, And Krabbe Disease, Kabir Jalal, Randy L Carter, Amy Barczykowski, Shunji Tomatsu, Thomas J Langan
A Roadmap For Potential Improvement Of Newborn Screening For Inherited Metabolic Diseases Following Recent Developments And Successful Applications Of Bivariate Normal Limits For Pre-Symptomatic Detection Of Mps I, Pompe Disease, And Krabbe Disease, Kabir Jalal, Randy L Carter, Amy Barczykowski, Shunji Tomatsu, Thomas J Langan
Department of Pediatrics Faculty Papers
The mucopolysaccharidoses (MPS), Pompe Disease (PD), and Krabbe disease (KD) are inherited conditions known as lysosomal storage disorders (LSDs) The resulting enzyme deficiencies give rise to progressive symptoms. The United States Department of Health and Human Services' Recommended Uniform Screening Panel (RUSP) suggests LSDs for inclusion in state universal newborn screening (NBS) programs and has identified screening deficiencies in MPS I, KD, and PD NBS programs. MPS I NBS programs utilize newborn dried blood spots and assay alpha L-iduronidase (IDUA) enzyme to screen for potential cases. Glycosaminoglycans (GAGs) offer potential as a confirmatory test. KD NBS programs utilize galactocerebrosidase (GaLC) …