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Phenylketonuria (PKU)

Our goal in creating The Frankfort Family Foundation for PKU is to raise awareness and advocate for Phenylketonuria and other rare diseases. We strive to educate ourselves and others, inspire hope, connect with individuals and families around the world, and support others in their unique journeys with rare diseases. Read on to learn more about this rare disease and how your support will change the lives of those in the PKU community.

What is PKU?

PKU is an inherited genetic metabolic condition in which the body cannot properly metabolize phenylalanine (‘phe’).  Phe is an amino acid found in all sources of protein.  People with PKU are deficient in the enzyme phenylalanine hydroxylase (PAH) which breaks down phe in the body.  Since a person with PKU lacks PAH, this causes a buildup of phenylalanine in the blood.  Excess ‘phe’ causes irreparable brain damage and can lead to neurological deficits.

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PKU is an autosomal recessive disease meaning an individual is affected when both parents carry a mutated copy of the gene.

  • Carrier

    • An individual is a carrier of a disease when they have a disease causing change in one copy of the gene 

  • Affected

    • An individual is affected with a disease when they inherit two mutated copies of the same gene (one from each parent)

  • Autosomal recessive disease inheritance (include infographic) – each individual child (not each pregnancy)

    • 25% chance affected

    • 25% chance unaffected

    • 50% chance carrier

How is it treated?

Currently there is no cure for PKU.  and treatment is in the form of strict monitoring of phe levels and other amino acids through regular and frequent blood draws, daily medication, restricted diet and special “phe-free” medical food. 

PKU is an incurable lifelong disease. Treatment most often involves strict adherence to specialized ‘phe-free’ or ‘low-phe’ diets to maintain phe levels within a therapeutic safe range.  Other treatment may include medications (Kuvan, Palyniq). 

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