Medication
What to Eat
- Foods that contain the artificial sweetener aspartame
- Meats (beef, pork, veal, goat, etc.)
- Poultry (chicken, turkey, etc.)
- Fish and seafood
- Eggs
- Soy foods (tofu, tempeh, soy meats, cheeses, etc.)
- Legumes (lentils, chickpeas, kidney, black, pinto beans, etc.)
- Artichokes
- Asparagus
- Avocado
Self-care
What are common treatments for phenylketonuria (PKU)? There is no cure for PKU, but treatment can prevent intellectual disabilities and other health problems. 1 A person with PKU should receive treatment at a medical center that specializes in the disorder. (Visit the Resources and Publications section for ways to locate a center.)
Nutrition
People with Phenylketonuria on average live for as long as any other normal person. The biggest factor towards their life expectancy is how well they have kept to their diets. As long as the patient maintains a low-protein diet and tests their blood regularly, they can live just as long as an unaffected person. The quality of life for people whith PKU is generally better than that of people with other serious genetic diseases.
What foods should be avoided with PKU?
PKU is usually diagnosed through newborn screening testing that is done shortly after birth on a blood sample (heel stick). However, PKU should be considered at any age in a person who has developmental delays or mental retardation. This is because, rarely, infants are missed by newborn screening programs.
Is there a cure for PKU?
What is the life expectancy of someone with phenylketonuria?
How and when is PKU diagnosed?
What treatments are available for PKU and its symptoms?
Phenylketonuria treatment There is no cure for PKU. The most important treatment is a diet that limits foods with phenylalanine. This means the diet must be low in protein. Newborns diagnosed with the disease must use special infant formula.
What is the foundation of PKU treatment?
The goal of PKU treatment is to maintain the blood level of Phe between 2 and 6 mg/dl [9]. The first line of therapy to treat PKU is medical nutrition therapy or the "PKU Diet". This consists of medical foods and a very restrictive diet. Some Phe is needed for normal growth.
Is gene therapy available for PKU?
HMI-102 is an investigational gene therapy in clinical development for the treatment of phenylketonuria (PKU) in adults. HMI-102 is designed to encode the PAH gene, which is mutated in people with PKU, and delivered via the liver-tropic AAVHSC15 vector.
Is there a cure for PKU coming soon?
There is no cure for PKU, but treatment can prevent intellectual disabilities and other health problems. A person with PKU should receive treatment at a medical center that specializes in the disorder.
Is PKU reversible?
PKU is a reversible neurodegenerative process within the nigrostriatum that begins as early as 4 weeks of age in Pah(enu2) mice. Brain Res.
How was PKU inherited?
For a child to inherit PKU , both the mother and father must have and pass on the changed gene. This pattern of inheritance is called autosomal recessive. It's possible for a parent to be a carrier — to have the changed gene that causes PKU , but not have the disease.
Where is PKU located?
Classical PKU is an autosomal recessive disorder, caused by mutations in both alleles of the gene for phenylalanine hydroxylase (PAH), found on chromosome 12.
What is the PAH gene?
The PAH gene provides instructions for making an enzyme called phenylalanine hydroxylase. This enzyme is responsible for the first step in processing phenylalanine, which is a building block of proteins (an amino acid) obtained through the diet. Phenylalanine is found in all proteins and in some artificial sweeteners.
What is the best supplement for PKU?
Neutral amino acid therapy. Another possible addition to the PKU diet is a supplement called neutral amino acid therapy in powder or tablet form. This supplement may block some absorption of phenylalanine. This may be a treatment option for adults with PKU.
What to eat for PKU?
Plan ahead, so there's always a PKU-friendly food option. Pack dehydrated fruit snacks, raisins and lower protein crackers for the car. Take fruit kebabs or vegetable skewers to a cookout, and make a low-phenylalanine salad for the neighborhood potluck.
What is the National PKU Alliance?
The National PKU Alliance is an online support group for adults with PKU. Get help with menu planning. A registered dietitian with experience in PKU can help you devise delicious low-phenylalanine dinners. He or she may also have great ideas for holiday meals and birthdays. Plan ahead when you eat out.
How to diagnose phenylketonuria?
Phenylketonuria is generally diagnosed through newborn screening. Once your child is diagnosed with PKU, you'll likely be referred to a medical center or specialty clinic with a doctor who specializes in treating PKU and a dietitian with expertise in the PKU diet.
Why do we need a PKU formula?
Taking a PKU formula — a special nutritional supplement — for life to make sure you get enough essential protein (without phenylalanine) and nutrients that are crucial for growth and general health.
How long after birth can you test for PKU?
Testing your baby after birth. A PKU test is done a day or two after your baby's birth. The test is done after your baby is 24 hours old and after your baby has ingested some protein in the diet to ensure accurate results. A nurse or lab technician collects a few drops of blood from your baby's heel or the bend in your baby's arm.
Can a baby with PKU eat formula?
Because regular infant formula and breast milk contain phenylalanine, babies with PKU instead need to consume a phenylalanine-free infant formula. A dietitian can carefully calculate the amount of breast milk or regular formula to be added to the phenylalanine- free formula.
What are the different types of PKU?
Types of PKU. There are four types of PKU: Hyperphenylalaninemia: the lowest level above normal. Mild PKU: blood levels are mildly elevated. Moderate or variant: levels are not low but not high. Classic PKU: blood levels of phenyla nine are high.
How to diagnose PKU?
Diagnosing PKU. Your baby will have been tested a day or two after birth. This test is done with a heel stick, and a small amount of blood is collected for this and other routine tests. If the test indicates that your baby may have this disorder, additional test will be performed.
What is PKU in biology?
What is Phenylketonuria (PKU)? Phenylketonuria is an inborn error of protein metabolism. It is a rare disease, and children who are born with this condition inherit it from their parents. This condition prevents the body from being able to properly break down proteins — specifically phenylanine, which is found in protein.
What happens if a pregnant woman has PKU?
Seizures. If a pregnant mother has PKU that is not controlled by diet, her baby may have a more severe form of this disorder. This can cause birth defects in the baby, such as a small head (microcephaly) and heart problems.
How do you know if you have a PKU?
Unless a child is born with birth defects, symptoms of PKU may not become noticeable for a few months. These symptoms in young babies can include: Eczema, a skin rash. Seizures. Slow growth. A musty body odor or breath. Uncontrolled PKU can lead to other problems as the child grows, such as: Developmental delays.
What is the goal of phenylanine treatment?
If your child has this disorder, he or she will need to begin treatment as soon as possible. The goal of treatment is to keep blood levels of phenylanine low.
Can phenylanine be broken down?
Medications and enzyme replacement therapy may also be useful in helping the body to break down phenylanine, or to help the body tolerate it better. Although this treatment is not yet available, in the future, liver transplants may be used to cure this disease.
What is Palynziq approved for?
The U.S. Food and Drug Administration today approved Palynziq (pegvaliase-pqpz) for adults with a rare and serious genetic disease known as phenylketonuria (PKU).
Can PKU cause psychiatric problems?
If untreated, PKU can cause chronic intellectual, neurodevelopmental and psychiatric disabilities. Lifelong restriction of phenylalanine intake through the diet is needed to prevent buildup of Phe in the body, which can cause long-term damage to the central nervous system.
What is the treatment for PKU?
Treatment consists of dietary restriction of phenylalanine often with tyrosine supplementation.
What is PKU in psychology?
Most patients with phenylketonuria (PKU) are treated in a specialty metabolic disease clinic, and such patients are probably best served by being followed in such a clinic. A psychologist should perform developmental testing at regular intervals. Whenever possible, the patient and parents should work with a nutritionist experienced in PKU, usually as part of a PKU or metabolic disease clinic.
How often should phenylalanine be monitored?
Phenylalanine levels are monitored typically twice a week in neonates, weekly in infants, biweekly or every 3 weeks in toddlers, and monthly thereafter, even during adult life. Attention should be given to variability in blood phenylalanine levels and to maintenance within the recommended range.
What are some supplements that are low in protein?
Supplements including capsules, amino acid bars, and amino acids cooked into foods, are becoming available. Energy and variety are provided by low-protein foods, including fruits and nonstarchy vegetables , as well as specially ordered low-protein foods.
Can you treat PKU before conception?
Treatment at any time during pregnancy may reduce the severity of developmental delay. Women with PKU should start a phenylalanine-restricted diet before conception, and those contemplating pregnancy or who are pregnant should be treated in metabolic or PKU clinics. Previous.
Do PKU patients have to eat bread?
As patients with PKU transition into adolescence, their caregivers have a less direct influence on their diet. It is common to see these patients "cheat" by failing to limit foods such as potatoes, pasta, and bread.
Is sapropterin effective for PKU?
Sapropterin was approved by the US Food and Drug Administration (FDA) as a treatment for PKU. It seems to be effective in a subset of patients. Although patients with classic PKU are less likely to be responders, response has been documented in this group and a trial is not unreasonable. [ 19] .
Diagnosis
Treatment
Lifestyle and Home Remedies
Coping and Support
Specialist to consult
Preparing For Your Appointment