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Case Series

Normalizing Diet in Individuals with Phenylketonuria Treated with Pegvaliase: A Case Series and Patient Perspective

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Pages 145-154 | Published online: 24 Dec 2021

References

  • Hillert A, Anikster Y, Belanger-Quintana A, et al. The Genetic Landscape and Epidemiology of Phenylketonuria. Am J Hum Genet. 2020;107(2):234–250. doi:10.1016/j.ajhg.2020.06.006
  • Vockley J, Andersson HC, Antshel KM, et al. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet Med. 2014;16(2):188–200. doi:10.1038/gim.2013.157
  • Singh RH, Rohr F, Frazier D, et al. Recommendations for the nutrition management of phenylalanine hydroxylase deficiency. Genet Med. 2014;16(2):121–131. doi:10.1038/gim.2013.179
  • Brown CS, Lichter-Konecki U. Phenylketonuria (PKU): a problem solved? Mol Genet Metab Rep. 2016;6:8–12. doi:10.1016/j.ymgmr.2015.12.004
  • Cazzorla C, Bensi G, Biasucci G, et al. Living with phenylketonuria in adulthood: the PKU ATTITUDE study. Mol Genet Metab Rep. 2018;16:39–45. doi:10.1016/j.ymgmr.2018.06.007
  • Hoeksma M, Reijngoud DJ, Pruim J, de Valk HW, Paans AM, van Spronsen FJ. Phenylketonuria: high plasma phenylalanine decreases cerebral protein synthesis. Mol Genet Metab. 2009;96(4):177–182. doi:10.1016/j.ymgme.2008.12.019
  • Pilotto A, Blau N, Leks E, et al. Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria. J Inherit Metab Dis. 2019;42(3):398–406. doi:10.1002/jimd.12049
  • Dobrowolski SF, Phua YL, Sudano C, et al. Phenylalanine hydroxylase deficient phenylketonuria comparative metabolomics identifies energy pathway disruption and oxidative stress. Mol Genet Metab. 2021. doi:10.1016/j.ymgme.2021.04.002
  • Ashe K, Kelso W, Farrand S, et al. Psychiatric and Cognitive Aspects of Phenylketonuria: the Limitations of Diet and Promise of New Treatments. Front Psychiatry. 2019;10:561. doi:10.3389/fpsyt.2019.00561
  • Bilder DA, Kobori JA, Cohen-Pfeffer JL, Johnson EM, Jurecki ER, Grant ML. Neuropsychiatric comorbidities in adults with phenylketonuria: a retrospective cohort study. Mol Genet Metab. 2017;121(1):1–8. doi:10.1016/j.ymgme.2017.03.002
  • Burgess NM, Kelso W, Malpas CB, et al. The effect of improved dietary control on cognitive and psychiatric functioning in adults with phenylketonuria: the ReDAPT study. Orphanet J Rare Dis. 2021;16(1):35. doi:10.1186/s13023-020-01668-2
  • Burton BK, Leviton L. Reaching out to the lost generation of adults with early-treated phenylketonuria (PKU). Mol Genet Metab. 2010;101(2–3):146–148. doi:10.1016/j.ymgme.2010.06.006
  • US Food and Drug Administration. Palynziq Full Prescribing Information. Available from: https://www.accessdata.fda.gov/drugsatfda_docs/label/2018/761079s000lbl.pdf. Accessed December 20, 2021.
  • European Medicines Agency. Palynziq. Available from: https://www.ema.europa.eu/en/medicines/human/EPAR/palynziq. Accessed December 20, 2021.
  • Thomas J, Levy H, Amato S, et al. Pegvaliase for the treatment of phenylketonuria: results of a long-term Phase 3 clinical trial program (PRISM). Mol Genet Metab. 2018;124(1):27–38. doi:10.1016/j.ymgme.2018.03.006
  • Longo N, Dimmock D, Levy H, et al. Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria. Genet Med. 2019;21(8):1851–1867. doi:10.1038/s41436-018-0403-z
  • Rocha J, Bausell H, Bélanger-Quintana A, et al. Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase. Mol Genet Metab Rep. 2021;28:100771. doi:10.1016/j.ymgmr.2021.100771
  • Sacharow S, Papaleo C, Almeida K, et al. First 1.5 years of pegvaliase clinic: experiences and outcomes. Mol Genet Metab Rep. 2020;24:100603. doi:10.1016/j.ymgmr.2020.100603
  • Lah M, McPheron M. Palynziq clinic: one year and 43 patients later. Mol Genet Metab. 2021;133(3):250–256. doi:10.1016/j.ymgme.2021.05.006
  • Bernstein L, Burns C, Sailer-Hammons M, Kurtz A, Rohr F. Multiclinic Observations on the Simplified Diet in PKU. J Nutr Metab. 2017;2017:4083293. doi:10.1155/2017/4083293
  • Boyer M, Skaar J, Sowa M, Tureson JR, Chapel-Crespo CC, Chang R. Continuation of pegvaliase treatment during pregnancy: a case report. Mol Genet Metab Rep. 2021;26:100713. doi:10.1016/j.ymgmr.2021.100713
  • Evans S, Daly A, Chahal S, MacDonald J, MacDonald A. Food acceptance and neophobia in children with phenylketonuria: a prospective controlled study. J Hum Nutr Diet. 2016;29(4):427–433. doi:10.1111/jhn.12346