{"id":12,"date":"2023-01-05T17:58:09","date_gmt":"2023-01-05T17:58:09","guid":{"rendered":"https:\/\/pkudsehcp-dev-001.azurewebsites.net\/en-us\/phenylketonuria\/?page_id=12"},"modified":"2024-07-31T13:19:53","modified_gmt":"2024-07-31T13:19:53","slug":"home","status":"publish","type":"page","link":"https:\/\/hcp.biomarin.com\/en-us\/pku\/","title":{"rendered":"Home"},"content":{"rendered":"
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For patients with phenylketonuria (PKU),
\nyour decisions today could determine their tomorrow\n<\/h1>\n\t\t\t\t\t\t\t\t\t\t\t\t

PKU is characterized by a deficiency in phenylalanine hydroxylase (PAH) activity resulting in an excess of the amino acid phenylalanine (Phe) in the blood and brain. If not adequately controlled, Phe becomes neurotoxic and disrupts normal neurophysiology.1,2<\/sup><\/p>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n\n

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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<\/sup><\/p>\n <\/div>\n\n

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\n \"Phe <\/div>\n <\/figure>\n <\/div>\n
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What causes PKU?\n<\/h3>\n

PKU is an autosomal recessive inborn error of Phe metabolism, which can have significant neurodevelopment sequelae.1-3<\/sup><\/p>\n

Genetics and Pathophysiology <\/a><\/p>\n <\/div>\n<\/div>\n\n

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Phe control diminishes with age2,4<\/sup>\n<\/h3>\n

67% of adults with PKU are above guideline Phe target ranges, increasing the severity of neuropsychological symptoms and negatively impacting life trajectory.4<\/sup><\/p>\n

Lifelong burden <\/a><\/p>\n <\/div>\n<\/div>\n\n

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\n \"PKU <\/div>\n <\/figure>\n <\/div>\n
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Learn more about PKU symptoms\n<\/h3>\n

The effects of high Phe are felt throughout a patient\u2019s life and lead to many typical PKU symptoms.5,6<\/sup><\/p>\n

Rethink PKU challenges <\/a><\/p>\n <\/div>\n<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n

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References:<\/strong> 1<\/strong>.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.<\/em> 2019;10:561. doi:10.3389\/fpsyt.2019.00561. 2<\/strong>. Brown CS, Lichter-Konecki U. Phenylketonuria (PKU): a problem solved? Mol Genet Metab Rep<\/em>. 2016;6:8-12. 3<\/strong>. Gentile JK, Ten Hoedt AE, Bosch AM. Psychosocial aspects of PKU: hidden disabilities\u2014a review. Mol Genet Metab<\/em>. 2010;99(suppl 1):S64-S67. 4<\/strong>. Jurecki ER, Cederbaum S, Kopesky J, et al.<\/em> Adherence to clinic recommendations among patients with phenylketonuria in the United States. Mol Genet Metab.<\/em> 2017;120(3):190-197. 5<\/strong>. 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<\/em>. 2014;16(2): 188-200. 6<\/strong>. van Wegberg AMJ, MacDonald A, Ahring K, et al. The complete European guidelines of phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis<\/em>. 2017;12( l ):162. doi: l0.1186\/s 13023-017-0685-2.<\/small><\/p>\n <\/div>\n <\/div>\n <\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":3,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-12","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"\nPhenylketonuria (PKU): Healthcare Professional Resource<\/title>\n<meta name=\"description\" content=\"Healthcare professional resource for treating people with phenylketonuria (PKU). 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