This site has been developed for healthcare professionals who treat people with phenylketonuria (PKU). The site is meant to educate and heighten awareness of the PKU burden of illness, the impact of elevated phenylalanine (Phe), as well as the continued unmet need.1,2
PKU is an autosomal recessive inborn error of Phe metabolism, which can have significant neurodevelopment sequelae.1-3
67% of adults with PKU are above guideline Phe target ranges, increasing the severity of neuropsychological symptoms and negatively impacting life trajectory.4
The effects of high Phe are felt throughout a patient’s life and lead to many typical PKU symptoms.5,6
References: 1.Ashe K, Kelso W, Farrand S, et al. Psychiatric and cognitive aspects of phyenylketonuria: the limitations of diet and promise of new treatments. Front Psychiatry. 2019;10:561. doi:10.3389/fpsyt.2019.00561. 2. Brown CS, Lichter-Konecki U. Phenylketonuria (PKU): a problem solved? Mol Genet Metab Rep. 2016;6:8-12. 3. Gentile JK, Ten Hoedt AE, Bosch AM. Psychosocial aspects of PKU: hidden disabilities—a review. Mol Genet Metab. 2010;99(suppl 1):S64-S67. 4. Jurecki ER, Cederbaum S, Kopesky J, et al. Adherence to clinic recommendations among patients with phenylketonuria in the United States. Mol Genet Metab. 2017;120(3):190-197. 5. Vockley J, Andersson HC, Antshel KM, et al; American College of Medical Genetics and Genamics Therapeutic Committee. Phenylalanine hydroxylase deficiency: diagnosis and management guidelines. Genet Med. 2014;16(2): 188-200. 6. van Wegberg AMJ, MacDonald A, Ahring K, et al. The complete European guidelines of phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis. 2017;12( l ):162. doi: l0.1186/s 13023-017-0685-2.