Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland.

doi:10.1002/jimd.12337

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Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland.

Journal of inherited metabolic disease - 1 May 2021

O'Reilly Daniel, Crushell Ellen, Hughes Joanne, Ryan Stephanie, Rogers Yvonne, Borovickova Ingrid, Mayne Philip, Riordan Michael, Awan Atif, Carson Kevin, Hunter Kim, Lynch Bryan, Shahwan Amre, Rüfenacht Véronique, Häberle Johannes, Treacy Eileen P, Monavari Ahmad A, Knerr Ina

Abstract excerpt

Since 1972, 18 patients (10 females/8 males) have been detected by newborn bloodspot screening (NBS) with neonatal-onset maple syrup urine disease (MSUD) in Ireland. Patients were stratified into three clusters according to clinical outcome at the time of data collection, including developmental, clinical, and IQ data. A fourth cluster comprised of two early childhood deaths; a third patient died as an adult. We...

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PMID: 33300147
DOI: 10.1002/jimd.12337

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