Considerable knowledge has been gained regarding the improvement of neurological and neuropsychosocial symptoms associated with reduction of phenylalanine (Phe).2,3
The American College of Medical Genetics and Genomics (ACMG) released guidelines in 2014 on the diagnosis and management of phenylketonuria (PKU) – View the complete ACMG Guidelines here.
*Based on 2 publications summarizing results from a focus group of 8 LTFU adults with PKU observed by 10 clinicians, followed by an advisory session with the group of physicians, and an online survey of 55 US PKU clinics and Expert Meeting of 15 members from US PKU clinics. Funded by BioMarin.7,8
In combination with a phenylalanine (Phe)-restricted diet, there are pharmacological options which may help reduce blood Phe levels for patients with PKU.
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