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Medications and More during pregnancy and breastfeeding

Phenylketonuria (PKU)

Selected References:

  • American Academy of Pediatrics. 2008. Maternal phenylketonuria. Committee on Genetics. Pediatrics;122:445–9.
  • American College of Obstetricians and Gynecologists Committee on Genetics. 2020. ACOG Committee Opinion 802: Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria). Obstet Gynecol. 135(4):e167-e170.
  • Aldámiz-Echevarría L,et al. 2014. A new case of maternal phenylketonuria treated with sapropterin dihydrochloride. Gynecol Endocrinol. 13:1-3.
  • Banta-Wright SA, et al. 2014. Breastfeeding infants with phenylketonuria in the United States and Canada. Breastfeeding Medicine, 9(3), 142-148.
  • Burgard P, et al. 1997. Neuropsychologic functions of early treated patients with phenylketonuria, on and off Diet: Results of a cross-national and cross-sectional study. Pediatr Res 41(3):368-374.
  • Camp KM, et al. 2014. Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab. 112(2):87-122.
  • Cetin I, et al. 1990. Umbilical amino acid concentration in normal and growth-retarded fetuses sampled in utero by cordocentesis. Am J Obstet Gynecol; 162(1):253–261.
  • Feillet F, et al. 2014. Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases.J Inherit Metab Dis.
  • Fisch RO, et al. 1991. Children of fathers with phenylketonuria: An international survey. J Pediatr 118(5): 39-741.
  • Fox-Bacon C, et al. 1997. Maternal PKU and breastfeeding: case report of identical twin mothers. Clin Pediatr 36(9):539-542.
  • Grange DK,et al. 2014. Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry. Phenylketonuria Demographics Outcomes and Safety (PKUDOS) registry; Maternal Phenylketonuria Observational Program (PKU MOMS) sub-registry. Mol Genet Metab. 112(1):9-16.
  • Grohmann-Held K, et al. 2022. Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring’s outcome in phenylketonuria. J Inherit Metab Dis; 45( 6): 1070- 1081.
  • Güttler F, et al. 1990. Cognitive development in offspring of untreated and preconceptionally treated maternal phenylketonuria. J Inherit Metab Dis. 13(4):665-71.
  • Kenneson A, Borth MI, et al. 2024. Characteristics and outcomes of pregnancies among women with phenylketonuria from the NBS Connect registry. Mol Genet Metab Rep; 39:101092.
  • Koch R, et al. 2003. The Maternal Phenylketonuria International Study: 1984–2002. Pediatrics 112(suppl): 1523-1529.
  • Koch R, el al. 2005. Tetrahydrobiopterin and maternal PKU. Mol Gen Met 86: S139-S141.
  • Koch R, et al. 2010. Psychosocial issues and outcomes in maternal PKU. Mol Genet Metab. 99 Suppl 1:S68-74.
  • Kose E, et al. 2017. The effects of breastfeeding in infants with Phenylketonuria. J Pediatr Nurs; 38:27-32.
  • Lenke RR and Levy HL. 1980. Maternal phenylketonuria and hyperphenylalanemia: An international survey of the outcome of untreated and treated pregnancies. NEJM 303(21):1202-1208.
  • Levy HL, et al. 1991. Paternal phenylketonuria. J Pediatr 118(5):741-743.
  • Levy HL, et al. 1996. Fetal ultrasonagraphy in maternal PKU. Prenat Diagn 16:599-604.
  • Levy HL & Ghavami M. 1996. Maternal phenylketonuria: a metabolic teratogen. Teratology. 53(3):176-84.
  • Lichter-Konecki, U, et al. 2019. Phenylketonuria: Current Treatments and Future Developments. Drugs 79, 495–500
  • Maillot, F, et al. 2007. A practical approach to maternal phenylketonuria management. J Inherit Metab Dis. 30, 198–201.
  • Michals-Matalon K et al. 2003. Role of nutrition in pregnancy with phenylketonuria and birth defects. Pediatrics 112(suppl): 1534-1536.
  • Nielsen MR, Jørgensen C, et al. 2023. The impact of phenylalanine levels during pregnancy on birth weight and later development in children born to women with phenylketonuria. J Inherit Metab Dis; 46(4):586-594.
  • Platt LD, et al. 2000. The international study of pregnancy outcome in women with maternal phenylketonuria: report of a 12-year study. American journal of obstetrics and gynecology, 182(2), 326-333.
  • Prick BW, et al. 2012. Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies. Am J Clin Nutr 95:374–382.
  • Rouse B, et al. 1997. Maternal phenylketonuria Collaborative Study (MPUCS) offspring: Facial anomalies, malformations, and early neurological sequelae. Am J Med Genet 69:89-95.
  • Rouse B & Azen C. 2004. Effect of high maternal blood phenylalanine on offspring congenital anomalies and developmental outcome at ages 4 and 6 years: the importance of strict dietary control preconception and throughout pregnancy. J Pediatr 144:235–239.
  • Schmidt E, et al. 1994. Sustained attention in adult phenylketonuria: the influence of the concurrent phenylalanine-blood level. J Clin Exp Neuropsych 16(5):681-688.
  • Singh RH, et al. 2014. Recommendations for the nutrition management of phenylalanine hydroxylase deficiency. Genet Med 16:121–123.
  • Smith WE, Berry SA, et al. 2025. Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med; 27(1):101289.
  • Teissier R, et al. 2012. Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardation. AFDPHE (Association Française pour le Dépistage et la Prévention des Handicaps de l’Enfant). J Inherit Metab Dis ;35:993–9.
  • Trefz FK, et al. 2003. Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria. Pediatrics 112(suppl): 1566-1569.
  • Van Rijn M, et al. 2003. A different approach to breast-feeding of the infant with phenylketonuria. Eur J Pediatr 162:323-326.
  • van Wegberg, A.M.J., et al. 2017. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis (12) 162.
  • Vockley J, et al. 2014. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genetics in Medicine, 16(2), 188.
  • Waisbren SE, et al. 2014. Maternal phenylketonuria: long-term outcomes in offspring and post-pregnancy maternal characteristics. In JIMD Reports, Volume 21 (pp. 23-33).
  • Wambach K & Riordan J. 2016. Breastfeeding and human lactation. Jones & Bartlett Learning.
  • Weglage J, et al. 2001. Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia. Pediatr Res 49:532–536.
  • Widaman KF, Azen C. 2003. Relation of prenatal phenylalanine exposure to infant and childhood cognitive outcomes: results from the International Maternal PKU Collaborative Study. Pediatrics;112:1537–43.

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