Rare Disease Day: Understanding Phenylketonuria (PKU)

Feb 26, 2016
In honor of Rare Disease Day, specialist pharmacists in the Accredo Rare Disease Therapeutic Center® provide tips for patients managing rare conditions such as Phenylketonuria.

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Rare Disease Day is an international advocacy day to bring recognition to rare diseases. There are nearly 7,000 rare diseases affecting nearly 30 million Americans.

At Accredo, an Express Scripts company, pharmacists in the Rare Disease Therapeutic Resource Center® (TRC) have specialized training to assist with the complex care and treatment that these conditions require. Accredo provides specialized care for patients with rare diseases such as nephropathic cystinosis, congenital sucrase-isomaltase deficiency (CSID), urea cycle disorders, homozygous familial hypercholesterolemia, and phenylketonuria.

1 in 10 people are living with a Rare Disease.

Understanding the Condition

Phenylketonuria (PKU) is a rare, inherited disorder occurring in about 1 in every 15,000 births in America. PKU results from a genetic defect in the enzyme required to break down phenylalanine, an essential amino acid. While phenylalanine is necessary for the body to make protein, too much phenylalanine can be toxic. Common early signs associated with PKU include small head size, eczema and a musty body odor. Untreated PKU can result in seizures, behavior problems and mental retardation.

Women with PKU of childbearing age should talk with their doctor before getting pregnant and ensure their phenylalanine levels are under control. Uncontrolled phenylalanine levels during pregnancy can harm an unborn child – leading to heart defects, impaired growth and cognitive impairment.

PKU is part of newborn screening programs in all 50 states, since early treatment is essential to preventing long-term mental impairment. Newborn screening programs are essential to providing early access to care. Parents with PKU may request pre-natal PKU testing for their baby.

If your child is diagnosed with PKU, engage regularly with the school or daycare to plan for medication and formula administration, special dietary requirements and special educational plans to ensure your child has accommodations for PKU-related conditions.

Why Staying on Track is Key

Unlike some rare diseases, the consequences of nonadherence to diet and medication may not be evident immediately. Patients often “feel” fine without their medication, but may have reduced ability to concentrate and focus or experience depression and anxiety. However, the accumulating effects of poor control can last a lifetime, leading to long-term changes in thinking, behavior and mood.

Treatment for PKU

PKU is a very treatable disease. Current guidelines recommend keeping Phenylalanine levels between 120–360 μmol/Liter.

The cornerstone of therapy is following a strict low-phenylalanine diet. A typical PKU diet will restrict high protein foods such as meat, eggs, dairy products, dry beans and nuts. Instead, most patients use special PKU supplements and medical formulas to meet their protein needs.

Kuvan® (sapropterin) is the only FDA-approved medication available to treat PKU. Kuvan works by increasing the activity of the enzyme that breaks down phenylalanine. Currently available treatments are not a cure for PKU, but adherence to Kuvan and dietary phenylalanine restrictions can keep phenylalanine levels under control.

Getting the Most Out of Your Treatment Plan

Here are a few tips to ensure healthy outcomes for patients with PKU:

  • See your physician regularly and closely follow and keep your regular appointments to check your phenylalanine levels.
  • Follow your low-phenylalanine diet plan recommended by a trained dietician familiar with PKU and consider keeping a food diary.
  • Use mobile applications – such as the Express Scripts app – to help you remember when to take your medication. 

Specialist pharmacists and nurses in the Rare Disease TRC have specialized knowledge of PKU and are available 24/7 to educate patients about medication administration and storage, discuss potential on drug or food interactions, and help manage medication side effects.

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