Perspectives and Insights Into Phenylketonuria: Provider Narratives About the Early Years Following Newborn Screening

Suzanne Hollander; Harvey Levy; Fran Rohr; Susan Waisbren; Priscila Rincon; Ann Wessel; Stephanie Sacharow

doi:10.1002/ajmg.c.32111

Perspectives and Insights Into Phenylketonuria: Provider Narratives About the Early Years Following Newborn Screening

Am J Med Genet C Semin Med Genet. 2024 Nov;196(2-3):e32111. doi: 10.1002/ajmg.c.32111. Epub 2024 Sep 9.

Authors

Suzanne Hollander^{1

2}, Harvey Levy^{1

3}, Fran Rohr⁴, Susan Waisbren^{1

3}, Priscila Rincon¹, Ann Wessel^{1

2}, Stephanie Sacharow^{1

3}

Affiliations

¹ Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
² Department of Clinical Nutrition, Boston Children's Hospital, Boston, Massachusetts, USA.
³ Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
⁴ Met Ed, Boulder, Colorado, USA.

PMID: 39246069
DOI: 10.1002/ajmg.c.32111

Abstract

The understanding of phenylketonuria (PKU), guidelines, and treatment landscape have evolved dramatically over the decades since newborn screen implementation. We capture this rich history from the stories and experiences of a multidisciplinary provider team from Boston Children's Hospital's PKU Clinic, who treated PKU from the early years of newborn screening and who worked together for over 40 years.

Keywords: maternal pku; medical nutrition therapy; newborn screening; phenylketonuria; pku.

MeSH terms

Humans
Infant, Newborn
Neonatal Screening*
Phenylketonurias* / diagnosis