Medical and Dietary Guidelines for PKU


The National PKU Alliance and Canadian PKU and Allied Disorders are pleased to announce that the first-ever specific medical and dietary guidelines for the treatment of PKU have been released by the American College of Medical Genetics and Genomics and Genetic Metabolic Dieticians International.  The guidelines represent a tremendous step forward in ensuring that all patients in the U.S. and Canada receive the highest quality of care and treatment in the management of their PKU.

 

Our two national patient and families associations congratulate ACMG and GMDI for their leadership in developing these thorough guidelines. The recommendations are based upon the NIH 2000 Consensus Conference for PKU, the 2012 NIH Scientific Review Conference and a review by the U.S. Agency for Healthcare Research and Quality.  The work groups who prepared these guidelines included PKU doctors from the USA and Canada.

The National PKU Alliance and Canadian PKU and Allied Disorders has summarized the key recommendations released.  Click here for the summary of the medial and dietary guidelines. These guidelines should be discussed with your PKU treatment team to help you get the best possible care in managing your PKU.  

 

Click here for a PDF of the full medical guidelines. 

Click here for a PDF of the full medical guidelines in Spanish.

Click here for a PDF of the full dietary guidelines.

The key recommendations on the new guidelines include:


  • The guidelines refer to PKU as phenylalanine hydroxylase (PHA) deficiency.
  • The treatment of PKU is lifelong with a goal of maintaining blood PHE levels in the range of 120-360 umol/l (2-6 mg/dl) in patients of all ages for life.
  • Patients treated within the early weeks of life with initial good metabolic control, but who lose that control in later childhood or as an adult, may experience both reversible and irreversible neuropsychiatric consequences.
  • PAH genotyping (i.e. mutation analysis) is recommended for improved therapy planning.
  • Medical foods (formula and foods modified to be low in protein) are medically necessary for people living with PKU and should be regarded as medications.
  • Any combination of therapies (medical foods, Kuvan, etc) that improve a patient's blood PHE levels is appropriate and should be individualized.
  • Reduction of blood PHE, increase in PHE tolerance or improvement in clinical symptoms of PKU are all valid indications to continue a particular therapy.
  • Genetic counseling should be provided as an ongoing process for individuals with PKU and their families.
  • Due to an increased risk for neurocognitive and psychological issues, regular mental health monitoring is warranted.  A number of screening tests are recommended to identify those in need of further assessment.
  • Blood PHE should be monitored at a consistent time during the day, preferably 2-3 hours after eating.
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