What are the options for PKU patients?

In combination with a phenylalanine (Phe)-restricted diet, there are pharmacological options which may help reduce blood Phe levels for patients with PKU.

Dietary therapy

Globally, the approach for phenylketonuria (PKU) management has been a highly phenylalanine (Phe)-restricted diet and medical nutritional therapy supplements.^1-3

Nutrient requirements in phenylalanine hydroxylase (PAH) enzyme deficiency

Restriction of natural protein intake and replacement with a protein (amino acid mixture) devoid of Phe¹

Medical foods in PAH deficiency

PKU medical food/formula supplements provide protein, calories, and other nutrients and help facilitate compliance with dietary Phe restriction¹

Modified low-protein foods¹

Modified low-protein foods help provide satiety to patients

Pharmacologic options exist for patients with PKU

In combination with a low-Phe diet, prescription PKU medications are available, which may help reduce blood Phe levels.

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Learn more about PKU

Do you know the symptoms of uncontrolled Phe levels?

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88% of patients with PKU struggle to maintain blood Phe control with a Phe-restricted diet alone⁴

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References:

Vockley J, Andersson HC, Antshel KM, et al; American College of Medical Genetics and Genomics Therapeutic Committee. Phenylalanine hydroxylase deficiency: diagnosis and management guidelines. Genet Med. 2014;16(2):188-200.
van Spronsen FJ, van Wegberg AMJ, Ahring K, et al. Key European guidelines for the diagnosis and management of patients with phenylketonuria. Lancet Diabetes Endocrinol. 2017;5(9):743-756.
Rocha JC, MacDonald A. Dietary intervention in the management of phenylketonuria: current perspectives. Ped Health Med Ther. 2016;7:155-163.
Enns GM, Koch R, Brumm V, Blakely E, Suter R, Jurecki E. Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence. Mol Genet Metab. 2010;101(2-3):99-109.

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Phenylketonuria management is lifelong1