Alliance of PKU Families

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Alliance of PKU Families: Supporting Those Affected by PKU

Purpose
  1. We promote and advocate for the welfare of those affected by Phenylketonuria. This genetic disease impacts their daily lives and their families.
  2. To promote the nurturing and education of learning to navigate a restrictive diet and supplemental therapies.
  3. To build a supportive environment in the locations of West Virginia, Virginia, Maryland, Pennsylvania, and Washington, DC.

About Us:

The Alliance of PKU Families (APF) began in 1994. It was founded by parents of children with PKU. Their goal was to promote the health and well-being of persons with PKU. The inaugural event, Camp Huber for people with PKU and their families/support persons, offered educational experiences. It also included networking and entertainment. PKU food was on the menu and no explanations of diet were needed.

Over the years, APF expanded their goals and reach. They now host several events throughout the year. These events engage about 100 people from across the Mid-Atlantic and sometimes further. APF works to make camp and other events affordable for all families. Many already struggle with high costs of insurance, medical food, formula, and medication. This ensures they are part of the APF community.

What is PKU?

Phenylketonuria (known as PKU) is an inherited metabolic disease. It affects the brain through increased levels of a substance called phenylalanine (Phe) in the blood. Phe, an amino acid, is a building block of protein. It is found in all proteins. It is also present in most foods and some artificial sweeteners. Infants are diagnosed with PKU through newborn screening followed up by blood work at a clinic. Those affected by PKU are on a low protein diet for life. Without remaining on diet, phenylalanine will build up in an individual with PKU’s bloodstream. This accumulation will travel to their brain. It causes loss of IQ, neurological problems, and more.

Please see more information here: https://www.npkua.org/What-is-PKU/About-PKU

Other Resources

What is PKU?

When untreated, people with PKU are at risk for severe neurological challenges. These include mood disorders and IQ loss. They also face intellectual disabilities, memory challenges, and concentration problems.

What Treatments Are Available?

Fortunately, the PKU test diagnoses almost all newborn children so that proper treatment can be provided immediately. Treatment for PKU consists of a very strict diet that eliminates virtually all protein. In the last decade, treatment has evolved to include the medications Kuvan (sapropterin dihydrochloride) and Palynziq (pegvaliase-pqpz) that enables people with PKU to create at least some of the enzyme that breaks down PHE. However, much more research needs to be done on treatments and the ultimate goal of a cure!

Other Resources:

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