How Is PKU Treated?

PKU is a treatable disease. Today, with newborn screening, infants are diagnosed early and many symptoms can be prevented through continuous lifelong treatment.1

Keeping blood Phe levels in control for life

PKU is a rare inherited disease that, when left untreated, causes high blood Phe levels to accumulate in the body.

High blood Phe levels can cause neurological problems throughout life. Without early and continuous treatment, a person may develop mental, behavioral, and physical problems. In teens and adults, poorly controlled blood Phe can lead to:

  • Lower IQ
  • Bad moods, being cranky or irritable
  • Feeling “foggy”
  • Thinking and responding slower
  • Not being able to focus or pay attention
  • Higher incidences of anxiety, depression, phobias, and social isolation

To protect the brain, people with PKU need to keep blood Phe levels low.*

Treatment guidelines recommend beginning treatment as early as possible, starting dietary treatment within the first week of life, and continuing treatment through life.1 By starting early and managing Phe levels for life, many symptoms can be prevented.

*Lower is better until you get Phe into the normal range of 1-2 mg/dL. Going lower than 1-2 mg/dL can pose its own health risks. Talk with your healthcare professional about the right target range for you.

Blood Phe levels

Current treatment guidelines recommend maintaining blood Phe levels between 120-360 µmol/L
(2-6 mg/dL) throughout life.1

To keep blood Phe levels within recommended ranges, the amount of Phe that can be consumed is different for every person with PKU. Your doctor and dietitian can determine what is the right amount for you.

Frequent blood tests will show how blood Phe levels change over time and can help you manage your PKU.

PKU is treatable

Treatment options include:

  • A lifelong diet that is low in Phe
  • Phe-free formula and low-protein foods
  • KUVAN (sapropterin dihydrochloride) is an FDA-approved drug for the treatment of PKU that may help lower blood Phe levels more when used in combination with a low-Phe diet

KUVAN is available in tablet or powder dosage form, so you can choose the option that works best for you or your child.

The only way to know if KUVAN will help lower blood Phe levels for you or your child is to try it.

Treatment guidelines recommend that all people with PKU be offered a trial of prescription medication to determine if it can help lower their blood Phe levels, except those with two null mutations in trans.1 With careful early and lifelong treatment management, people with PKU can live healthier and more productive lives. Talk to your healthcare professional to see if KUVAN could help you or your child.


For many people, KUVAN Tablets or Powder along with a low-Phe diet and formula can work together for better Phe control

Research for additional treatments and a possible cure is ongoing.

Low-Phe diet for life

Low Phe diet for better Phe control

Achieving and keeping blood Phe levels low throughout life begins with a low-Phe diet. The dietitian at your metabolic clinic can work closely with you to plan nutritious meals with low-Phe, low-protein foods and tell you which foods and how much can be eaten.

The low-Phe diet needs to be strictly and continuously followed throughout life. Planning ahead and sticking to a routine can help you stay with your meal plans. Those with PKU who continue the diet into adulthood can have better physical and mental health.

Frequent blood tests will monitor blood Phe levels as they change over time. Follow your clinic’s advice on how often you should check yours.

Foods to avoid

In order to keep Phe levels as low as possible, it’s important to avoid high-protein foods. Below are some examples. Your clinic team will work with you to determine what your daily Phe intake should be, and what foods you should avoid.

  • Milk
  • Eggs
  • Cheese
  • Nuts
  • Legumes (examples include soybeans,
    beans, and peas)
  • Chicken
  • Steak and other beef products
  • Milk chocolate
  • Fish
  • Beer
  • Pork
  • Grains


When someone with PKU eats high-protein foods, such as chicken, meat, eggs, dairy, nuts, grains, and legumes, his or her body cannot break down the Phe, and Phe levels build up in the blood, which can affect thinking, mood, and behavior.


Even some lower-protein foods may need to be limited, including:

  • Fruits
  • Desserts
  • Vegetables

Children and adults with PKU should also avoid products made with aspartame, such as many diet sodas, sugar-free foods such as some cereals, and certain medications.

Some foods are made to be low in protein and may be included in your meal plan. Your dietitian can help you add these to your diet.

PKU medical foods

For people with PKU, low-Phe foods and Phe-free formula provide the majority of Phe-free protein that they need to stay healthy.

Low-protein medical formulas

  • Provide the nutrients and protein that PKU patients get from their diet
  • Suit the nutritional needs of people with PKU at different ages
  • Are available in a variety of forms and flavors

PKU medication

Many people with PKU can also take prescription medication along with their low–Phe diet to help lower blood Phe levels. KUVAN is the first and only prescription medication for PKU that can offer additional help for those who respond to treatment in lowering their blood Phe levels.

KUVAN is available in tablet or powder dosage form, so you can choose the option that works best for you or your child.

KUVAN® (sapropterin dihydrochloride) Tablets for Oral Use or Powder for Oral Solution

KUVAN® (sapropterin dihydrochloride) Tablets for Oral Use or Powder for Oral Solution

It’s important to follow your individual treatment plan as developed by your doctor and dietitian. For many, this includes KUVAN Tablets or Powder, an FDA-approved prescription medication for PKU that can help lower blood Phe levels even more when used in combination with a low-Phe diet. KUVAN is the pharmaceutical form of BH4, the helper (or cofactor) of the PAH enzyme, which helps the PAH enzyme break down Phe. As a medication, KUVAN adds BH4 to the body, which helps lower Phe levels. KUVAN is available in tablet or powder dosage form, so you can choose the option that works best for you or your child.

Research has shown that KUVAN can reduce blood Phe levels in patients of all ages and across all ranges of symptoms. While KUVAN works for many, not every person with PKU responds.

Treatment guidelines recommend that all people with PKU, except those with two null mutations in trans, be offered a trial of KUVAN in addition to their low-Phe diet to determine if it can help lower blood Phe levels. Even people who have severe classic PKU could benefit from treatment with KUVAN.1

In the United States, there are no age-based restrictions for the prescribing of KUVAN.

Pediatric patients with PKU, aged 1 month to 16 years, have been treated with KUVAN in clinical studies. Children younger than 7 years old taking KUVAN are at a higher risk for low levels of blood Phe compared with children 7 years and older. Talk to your doctor or dietitian if you have any questions about adjusting your child’s diet. Blood Phe levels should be checked often to ensure they are not too high or too low.

Clinical studies of KUVAN in patients with PKU did not include patients aged 65 years and older. It is not known whether these patients respond differently than younger patients.

If you or your child would like to start KUVAN, ask your doctor or dietitian for more information.

 


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Indication

KUVAN® (sapropterin dihydrochloride) Tablets for Oral Use and Powder for Oral Solution are approved to reduce blood Phe levels in people with a certain type of Phenylketonuria (PKU). KUVAN is to be used with a Phe-restricted diet.

Important Safety Information

It is not possible to know if KUVAN will work for you without a trial of the medicine.

Your doctor will check your blood Phe levels when you start taking KUVAN to see if the medicine is working.

Starting KUVAN does not eliminate the need for ongoing dietary management. Any change to your diet may impact your blood Phe level. Follow your doctor’s instructions carefully. Your doctor and dietitian will continue to monitor your diet and blood Phe levels throughout your treatment with KUVAN to make sure your blood Phe levels are not too high or too low. If you have a fever, or if you are sick, your Phe level may go up. Tell your doctor and dietitian as soon as possible so they can make any necessary changes to your treatment.

Children younger than 7 years old treated with KUVAN doses of 20 mg/kg per day are at an increased risk for low levels of blood Phe compared with children 7 years and older. Frequent blood monitoring is recommended in this population to ensure that blood Phe levels do not fall too low.

Tell your doctor if you have ever had liver or kidney problems, have poor nutrition or have a loss of appetite, are pregnant or plan to become pregnant, or are breastfeeding or plan to breastfeed.

KUVAN is a prescription medicine and should not be taken by people who are allergic to any of its ingredients. KUVAN and other medicines may interact with each other. Tell your doctor about all the medicines you take, including prescription and over-the-counter medicines, vitamins, herbal and dietary supplements.

If you forget to take your dose of KUVAN, take it as soon as you remember that day. Do not take 2 doses in a day. If you take too much KUVAN, call your doctor for advice.

The most common side effects reported when using KUVAN are headache, runny nose and nasal congestion, sore throat, diarrhea, vomiting, and cough. Additional adverse reactions reported in connection with worldwide marketing include sore throat, heartburn or pain in the esophagus, inflammation of the lining of the stomach, indigestion, stomach pain, and nausea. These are not all the possible side effects seen with KUVAN. Call your doctor for medical advice about side effects. You may report side effects to FDA at 1-800-FDA-1088.

KUVAN can cause serious side effects, including:

  • Severe allergic reactions. Stop taking KUVAN and get medical help right away if you develop any of these symptoms of a severe allergic reaction:
    • Wheezing or trouble breathing
    • Nausea
    • Flushing
    • Lightheadedness or fainting
    • Coughing
    • Rash
  • Inflammation of the lining of the stomach (gastritis). Gastritis can happen with KUVAN and may be severe. Call your doctor right away if you have any:
    • Severe upper stomach-area discomfort or pain
    • Blood in your vomit or stool
    • Nausea and vomiting
    • Black, tarry stools
  • Too much or constant activity (hyperactivity) can happen with KUVAN. Tell your doctor if you have any signs of hyperactivity, including fidgeting, moving around or talking too much.

For more information, call BioMarin RareConnectionsTM at 1-877-MY-KUVAN (1-877-695-8826). Please read the full Patient Information by clicking here.