P029: Reproductive outcomes in the PHEFREE Rare Disease Consortium for phenylketonuria

Genetics in Medicine Open 2026 Open access

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Authors: Georgianne L. Arnold, Hadley Morotti, Gerard T. Berry, Shawn E. Christ, Dorothy Grange, Elaina R. Jurecki, Uta Lichter‐Konecki, Harvey L. Levy, Nicola Longo, Stephanie J. Sacharow, Brian J. Shayota, Janet Thomas
+1 more Desirée A. White
DOI: 10.1016/j.gimo.2026.103520
Cited by: 0

Abstract

Elevated phenylalanine (Phe) concentrations are a well-known teratogen, and prior reports of reproductive outcomes in women with phenylketonuria (PKU) have noted increased risk of miscarriage and congenital anomalies. Fewer studies have looked at other reproductive outcomes in PKU.

Fields of Study & Subjects

Metabolism and Genetic Disorders Pharmacological Effects and Toxicity Studies Reproductive Health and Technologies

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103520–103520
Publication date
1 January 2026
Language
EN