Selected References:
- American Academy of Pediatrics Committee on Genetics. 2008. Maternal phenylketonuria. Pediatrics 122:445–449.
- American College of Obstetricians and Gynecologists Committee on Genetics. 2020. Management of women with phenylalanine hydroxylase deficiency (phenylketonuria). Obstet Gynec, 135(4):e167-e170.
- Bier C, et al. 2024. Outcomes in 14 live births resulting from Pegvaliase-treated pregnancies in PKU-affected females. Mol Genet Metab, 141(3):108152.
- BioMarin Pharmaceutical Inc. Palynziq medication label. Available at: https://dailymed.nlm.nih.gov/dailymed/fda/fdaDrugXsl.cfm?setid=6dba844a-db02-44f8-8593-ce497ed9406c&type=display. Accessed 27 October 2025.
- Cunningham A, et al. 2023. Nutrition management of PKU with pegvaliase therapy: Update of the web-based PKU nutrition management guideline recommendations. Orphanet J Rare Dis, 18:155.
- Fisch RO, et al. 1981 Semen studies on phenylketonurics. Biochem Med, 26(3):427434. Kopesky JJ, et al. 2024. Successful outcomes with continued pegvaliase-pqpz treatment throughout pregnancy and lactation in a PKU patient. Mol Genet Metab, 141:18.
- Levy HL, Waisbren SE. 1983. Effects of untreated maternal phenyketonura and hyperphenylalaninemia on the fetus. N Engl J Med, 309:1269-1274.
- Rohr F, et al. 2020. Discontinuation of pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report. Mol Genet Metab Rep, 22:100555.
- Rohr F, et al. 2022. Reinstitution of pegvaliase therapy during lactation. Mol Genet Metab Rep, 33:100938.
- Teissier R, et al. 2012. Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardation. J Inherit Metab Dis, 35(6):993-999.
- U.S. Food and Drug Administration Center for Drug Evaluation and Research. Active Risk Identification and Assessment (ARIA) Sufficiency Memo for Pregnancy Safety Concerns. Available at: https://www.accessdata.fda.gov/drugsatfda_docs/nda/2018/761079Orig1s000OtherR.pdf. Accessed 27 October 2025.
- Waisbren SE, et al. 2015. Maternal phenylketonuria: long-term outcomes in offspring and post-pregnancy maternal characteristics. JIMD Rep, 21:23-33.
