Characteristics and outcomes of pregnancies among women with phenylketonuria from the NBS Connect registry

Aileen Kenneson; Margite I Borth; Rani H Singh

doi:10.1016/j.ymgmr.2024.101092

Characteristics and outcomes of pregnancies among women with phenylketonuria from the NBS Connect registry

Mol Genet Metab Rep. 2024 May 18:39:101092. doi: 10.1016/j.ymgmr.2024.101092. eCollection 2024 Jun.

Authors

Aileen Kenneson¹, Margite I Borth², Rani H Singh¹

Affiliations

¹ Emory University, Department of Human Genetics, USA.
² Emory University, Rollins School of Public Health, USA.

Abstract

Women with phenylketonuria (PKU) should maintain blood phenylalanine (phe) concentration within the recommended range before and during pregnancy to prevent maternal PKU syndrome (MPKUS) in their offspring. Women who gave birth to children with MPKUS symptoms were more likely to report elevated phe concentration before pregnancy, and barriers to accessing components of their dietary management during pregnancy, including blood phe testing, medical food, modified low-protein foods, and healthcare visits with PKU specialists.

Keywords: Hyperphenylalaninemia; Maternal PKU syndrome; Phenylketonuria; Pregnancy.