Symptoms
Tyrosine supplementation is necessary if you have the metabolic disorder phenylketonuria, also known as PKU. Athletes also take tyrosine supplements to help improve their performance, but research does not support the benefits of this use. Caffeine is a chemical found in foods such as coffee, cola and some teas.
Causes
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.
Prevention
Too much phenylalanine in the body causes problems with the brain and other organs. Damage from a buildup of phenylalanine can begin within the first month of life and, if undetected and/or untreated, PKU results in severe mental retardation, hyperactivity, and seizures. PKU affects about 1 baby in every 13,000 to 19,000 births.
Complications
PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine. Without the enzyme necessary to process phenylalanine, a dangerous buildup can develop when a person with PKU eats foods that contain protein or eats aspartame, an artificial sweetener. This can eventually lead to serious health problems.
Does caffeine interact with PKU?
Is there a cure for PKU?
Does PKU cause mental retardation?
Does aspartame interact with PKU?
How do you know if you have a PKU?
What causes PKU?
Why is it important to maintain a PKU diet?
What foods can cause phenylalanine buildup?
What is the name of the condition where a defect in the gene causes phenylalanine to build up?
Why do children with PKU need special diets?
What is the most severe form of PKU?
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About this website
What happens to the body when you have PKU?
Without treatment, PKU can damage the brain and nervous system, which can lead to learning disabilities. Other symptoms of untreated PKU include: behavioural difficulties such as frequent temper tantrums and episodes of self-harm.
How long do people with PKU live?
PKU does not shorten life expectancy, with or without treatment. Newborn screening for PKU is required in all 50 states. PKU is usually identified by newborn screening. A child's outlook is very good if she strictly follows the diet.
Is PKU life threatening?
Is PKU a life threatening disease? No. PKU is a slowly progressive disease that does not cause acute symptoms. During the first months of life it is completely asymptomatic and can only be detected by population screening determinations.
Can you recover from PKU?
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 considered a disability?
Phenylketonuria (pronounced fen-l-kee-toh-NOOR-ee-uh), often called PKU, is an inherited disorder that that can cause intellectual and developmental disabilities (IDDs) if not treated.
Can you drink alcohol with PKU?
Having PKU does not mean that alcohol is off limits, it's just important to be aware of the amount and type of alcohol you choose to drink and most importantly that you drink responsibly.
What do people with PKU eat?
The diet for PKU consists of a phenylalanine-free medical formula and carefully measured amounts of fruits, vegetables, bread, pasta, and cereals. Many people who follow a low phenylalanine (phe) food pattern eat special low protein breads and pastas.
What foods can PKU patients not eat?
People with PKU must avoid foods that are high in protein like meat, fish, poultry, dairy, soy, legumes (dried beans) or nuts. Some fruits and vegetables are higher in protein than others. PHE is in almost everything except sugar, salt, oil, and water.
What can a child with PKU eat?
A child with PKU should not eat milk, fish, cheese, nuts, beans, or meat. A child with PKU can eat many foods low in protein, such as vegetables, fruits, and some cereals. Your child may also need to take mineral and vitamin supplements to make up for nutrients missing from the diet.
Is untreated PKU fatal?
PKU is considered an amino acid condition because people with PKU cannot break down the amino acid called phenylalanine. If left untreated, PKU can cause brain damage or even death. However, if the condition is detected early and treatment is begun, individuals with PKU can lead healthy lives.
Does PKU run in families?
Phenylketonuria (PKU) is passed down through families. To have the disease, a baby must get (inherit) the PKU gene from both parents. The father and mother may not have PKU or even know that PKU runs in their families.
How many people have PKU in world?
PKU affects between 1 in 10,000 and 1 in 20,000 depending on the country of origin. The incidence varies widely in different human populations from 1 in 4,500 births among the population of Ireland [3] to fewer than one in 100,000 births among the population of Finland [4].
Can you outgrow PKU?
A person with PKU does not outgrow it and must stay on the diet for life.
What can people with PKU eat?
The diet for PKU consists of a phenylalanine-free medical formula and carefully measured amounts of fruits, vegetables, bread, pasta, and cereals. Many people who follow a low phenylalanine (phe) food pattern eat special low protein breads and pastas.
What are 3 facts about PKU?
Children with PKU can't make the enzyme that is needed to break down phenylalanine to get rid of it.If PKU isn't treated, phenylalanine builds up in the blood and causes brain problems (intellectual disability. ... Children with PKU must stay on a lifelong special diet that has very little phenylalanine in it.
Is PKU more common in males or females?
The risk is the same for males and females. More than 300 different changes (mutations) in the PKU gene have been identified.
What are common symptoms of phenylketonuria (PKU)?
Children with untreated PKU appear normal at birth. But by age 3 to 6 months, they begin to lose interest in their surroundings. By age 1 year, children are developmentally delayed and their skin has less pigmentation than someone without the condition. If people with PKU do not restrict the phenylalanine in their diet, they develop severe intellectual and developmental disabilities.
What causes phenylketonuria (PKU)? | NICHD - Eunice Kennedy Shriver ...
PKU is caused by mutations in the gene that helps make an enzyme called phenylalanine hydroxylase (pronounced fen-l-AL-uh-neen hahy-DROK-suh-leys), or PAH. This enzyme is needed to convert the amino acid phenylalanine into other substances the body needs. When this gene, known as the PAH gene, is defective, the body cannot break down phenylalanine. Amino acids help build protein, but ...
Phenylketonuria, PKU Causes, Symptoms, Testing, Diet & Stats - MedicineNet
Mutations in the PAH gene cause phenylketonuria.. The PAH gene provides instructions for making an enzyme called phenylalanine hydroxylase. This enzyme converts the amino acid phenylalanine to other important compounds in the body. If gene mutations reduce the activity of phenylalanine hydroxylase, phenylalanine from the diet is not processed effectively.
Phenylketonuria: What Is It? - WebMD
What Is Phenylketonuria? Phenylketonuria (PKU) is a rare disorder you inherit from your parents. It affects the way your body handles an amino acid called phenylalanine (Phe for short).
Phenylketonuria (PKU) Guide: Causes, Symptoms and Treatment Options
Drugs.com provides accurate and independent information on more than 24,000 prescription drugs, over-the-counter medicines and natural products. This material is provided for educational purposes only and is not intended for medical advice, diagnosis or treatment. Data sources include IBM Watson Micromedex (updated 12 Oct 2022), Cerner Multum™ (updated 25 Oct 2022), ASHP (updated 12 Oct 2022 ...
What is the cause of PKU?
PKU is caused by mutations in the gene that helps make an enzyme called phenylalanine hydroxylase (pronounced fen-l-AL-uh-neen hahy-DROK-suh-leys ), or PAH. This enzyme is needed to convert the amino acid phenylalanine into other substances the body needs. When this gene, known as the PAH gene, is defective, the body cannot break down phenylalanine.
How to treat PKU?
These treatments include large neutral amino acid supplementation, which may help prevent phenylalanine from entering the brain, and enzyme replacement therapy, which uses a substance similar to the enzyme that usually breaks down phenylalanine. Researchers are also investigating the possibility of using gene therapy, which involves injecting new genes to break down phenylalanine. That would result in the breakdown of phenylalanine and decreased blood phenylalanine levels. 6
What if my newborn tests positive for PKU?
If your newborn's screening test comes back positive for PKU, your child will need additional tests to confirm that he or she definitely has the disorder. It is very important to follow your health care providers' instructions for further tests. These tests may be blood or urine tests that may show whether or not the child has PKU. If your child does have PKU, getting treatment quickly will help protect your child's health. 3
What is phenylketonuria?
Phenylketonuria (pronounced fen-l-kee-toh-NOOR-ee-uh ), often called PKU, is caused by phenylalanine hydroxylase (PAH) deficiency. It is an inherited disorder that that can cause intellectual and developmental disabilities (IDDs) if not treated. In PKU, the body can't process a portion of a protein called phenylalanine (pronounced fen-l-AL-uh-neen ), which is in all foods containing protein. High levels of phenylalanine can cause brain damage. PAH deficiency produces a spectrum of disorders, including PKU, non-PKU hyperphenylalaninemia, and variant PKU. Classic PKU is caused by a complete or near-complete deficiency of PAH.
What does it mean when a parent does not have a PKU?
Sometimes, a parent does not have PKU but is a carrier, which means the parent carries a mutated PAH gene. If only one parent carries the mutated gene, the child will not develop PKU.
How to diagnose PKU?
Nearly all cases of PKU are diagnosed through a blood test done on newborns. 1
When is PKU tested?
All children born in U.S. hospitals are tested routinely for PKU soon after birth, making it easier to diagnose and treat affected children early.
What happens if a child is born with PKU?
A child who is born with PKU and is not treated will have intellectual and developmental problems. He or she will also have less pigmentation in the skin.
What causes PKU in the body?
PKU is caused by the buildup of phenylalanine in the body. Your body uses this amino acid to make other proteins. If you have PKU, your body can’t break down phenylalanine. If it is not treated, this buildup damages the brain and causes PKU symptoms.
How to diagnose PKU?
Further tests will be required to confirm the type of PKU and plan the best way of treating it. In older people, PKU is diagnosed with a blood test that measures levels of phenylalanine in the blood.
What can a dietitian do for PKU?
A dietitian who is well versed in PKU can help create a diet for you. You must follow this diet for the rest of your life. As part of treatment, you’ll need frequent blood tests to monitor your phenylalanine levels.
What to do if you have PKU while pregnant?
If you have PKU and are pregnant, your doctor and dietitian will create a diet plan that ensures you receive proper nutrition while lowering your baby’s risk for complications.
What is phenylketonuria?
Phenylketonuria. Phenylketonuria is a genetic condition in which levels of phenylalanine build up in the blood. If it is not treated, phenylketonuria can cause brain damage and symptoms such as seizures and heart defects. Treatment involves cutting back on protein to limit the intake of phenylalanine. Appointments & Access. Contact Us. Overview.
How many babies are born with PKU?
If it is not treated, PKU causes serious complications, such as intellectual disabilities. In the United States, one in 10,000 to 15,000 babies is born with PKU every year. Cleveland Clinic is a non-profit academic medical center.
What is the cause of PKU?
PKU is caused by mutations in the gene that helps make an enzyme called phenylalanine hydroxylase (pronounced fen-l-AL-uh-neen hahy-DROK-suh-leys ), or PAH. This enzyme is needed to convert the amino acid phenylalanine into other substances the body needs. When this gene, known as the PAH gene, is defective, the body cannot break down phenylalanine.
What does it mean when a parent does not have a PKU?
Sometimes, a parent does not have PKU but is a carrier, which means the parent carries a mutated PAH gene. If only one parent carries the mutated gene, the child will not develop PKU.
What is the chance of a child having a PKU?
If both of a child's parents are carriers, there is a 25% chance that each parent will pass on the normal PAH gene. In this case, the child will not have the disorder. Conversely, there also is a 25% chance that the carrier parents will both pass along the mutated gene, causing the child to have PKU. However, there is a 50% chance that a child will inherit one normal gene from one parent and one abnormal one from the other, making the child a carrier.
Does phenylalanine harm nerve cells?
Amino acids help build protein, but phenylalanine can cause harm when it builds up in a person's body. In particular, nerve cells in the brain are sensitive to phenylalanine.
Is PKU inherited?
PKU is inherited from a person's parents. The disorder is passed down in a recessive pattern, which means that for a child to develop PKU, both parents have to contribute a mutated version of the PAH gene. If both parents have PKU, their child will have PKU as well.
What happens if you don't treat phenylketonuria?
If phenylketonuria (PKU) is not treated, what problems occur? Children and adults who do not receive treatment for PKU may develop a variety of symptoms. Children with PKU who are not treated may develop symptoms including behavioral problems, seizures, and severe intellectual and developmental disabilities. 1.
Can PKU cause unstable moods?
Adults with PKU who do not follow a special diet may develop unstable moods 2 and take longer to process information. 3 Adults with high phenylalanine levels who go back on a PKU diet may be able to improve their mental functioning and slow down any damage to their central nervous systems. 4
What is PKU in newborn screening?
Inheritance is autosomal recessive manner. [1] [2] Because PKU can be detected by a simple blood test and is treatable, PKU is part of newborn screening. Treatment for PKU normally involves a phenyalanine-restricted diet ...
What is phenylketonuria?
Listen. Phenylketonuria (PKU) is a genetic metabolic disorder that increases the body's levels of phenylalanine. Phenylalanine is one of the building blocks ( amino acids) of proteins. Humans cannot make phenyalanine, but it is a natural part of the foods we eat.
What happens if you don't treat phenylalanine?
This means phenylalanine builds up in the person's blood, urine, and body. If PKU is not treated, phenylalanine can build up to harmful levels in the body. [1] [2] [3] PKU varies from mild to severe. The most severe form is known as classic PKU.
Does phenylalanine build up in the body?
However, people do not need all the phenyalanine they eat, so the body converts extra phenylalanine to another harmless amino acid, tyrosine. People with PKU cannot properly break down the extra phenylalanine to convert it to tyrosine. This means phenylalanine builds up in the person's blood, urine, and body.
What happens if you eat PKU?
If you have PKU and eat these foods, Phe will build up in the blood. High levels of Phe can permanently damage the nervous system and brain, causing a variety of health problems. These include seizures, psychiatric problems, and severe intellectual disability.
What happens during a PKU screening test?
A health care provider will clean your baby's heel with alcohol and poke the heel with a small needle. The provider will collect a few drops of blood and put a bandage on the site.
What is a PKU screening test?
A PKU screening test is a blood test given to newborns 24–72 hours after birth. PKU stands for phenylketonuria, a rare disorder that prevents the body from properly breaking down a substance called phenylalanine (Phe). Phe is part of proteins that are found in many foods and in an artificial sweetener called aspartame.
What is a PKU diet?
A PKU diet usually means avoiding high-protein foods such as meat, fish, eggs, dairy, nuts, and beans. Instead, the diet will probably include cereals, starches, fruits, a milk substitute, and other items with low or no Phe.
When do you have to get a PKU test?
If the results were normal, but the test was done sooner than 24 hours after birth, your baby may need to be tested again at 1 to 2 weeks of age. Learn more about laboratory tests, reference ranges, and understanding results.
Do you need a PKU test for a newborn?
Newborns in the United States are required to get a PKU test . A PKU test is usually part of a series of tests called a newborn screening. Some older infants and children may need testing if they were adopted from another country, and/or if they have any symptoms of PKU, which include: Delayed development.
Do you have to pass a PKU test?
For a child to get the disorder, both the mother and father must pass down a mutated PKU gene. Although PKU is rare, all newborns in the United States are required to get a PKU test. The test is easy, with virtually no health risk.
What happens if you don't get PKU?
a musty odor of their breath, skin, or urine. If PKU isn’t diagnosed at birth and treatment isn’t started quickly, the disorder can cause: irreversible brain damage and intellectual disabilities within the first few months of life. behavioral problems and seizures in older children.
What happens if a baby isn't treated for PKU?
If the baby isn’t treated for PKU during this time, they’ll start to develop the following symptoms: seizures. tremors, or trembling and shaking. stunted growth. hyperactivity. skin conditions such as eczema. a musty odor of their breath, skin, or urine.
How to test for PKU in newborn?
Since the 1960s, hospitals in the United States have routinely screened newborns for PKU by taking a blood sample. A doctor uses a needle or lancet to take a few drops of blood from your baby’s heel to test for PKU and other genetic disorders.
How many babies are diagnosed with PKU?
Babies in the United States are screened for PKU shortly after birth. The condition is uncommon in this country, only affecting about 1 in 10,000 to 15,000 newborns each year. The severe signs and symptoms of PKU are rare in the United States, as early screening allows treatment to begin soon after birth. Early diagnosis and treatment can help ...
What causes phenylketonuria?
Causes of phenylketonuria. PKU is an inherited condition caused by a defect in the PAH gene. The PAH gene helps create phenylalanine hydroxylase, the enzyme responsible for breaking down phenylalanine. A dangerous buildup of phenylalanine can occur when someone eats high-protein foods, such as eggs and meat.
Why do babies get PKU?
PKU is caused by a defect in the gene that helps create phenylalanine hydroxylase. When this enzyme is missing, your body can’t break down phenylalanine. This causes a buildup of phenylalanine in your body. Babies in the United States are screened for PKU shortly after birth.
What is a PKU?
A less severe form of PKU is called variant PKU or non-PKU hyperphenylalaninemia. This occurs when the baby has too much phenylalanine in their body. Infants with this form of the disorder may have only mild symptoms, but they’ll need to follow a special diet to prevent intellectual disabilities.
How do you know if you have a PKU?
However, without treatment, babies usually develop signs of PKU within a few months. PKU signs and symptoms can be mild or severe and may include: A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body.
What causes PKU?
A defective gene (genetic mutation) causes PKU, which can be mild, moderate or severe. In a person with PKU, this defective gene causes a lack of or deficiency of the enzyme that's needed to process phenylalanine, an amino acid. A dangerous buildup of phenylalanine can develop when a person with PKU eats protein-rich foods, such as milk, cheese, ...
Why is it important to maintain a PKU diet?
It's especially important for women with a history of PKU to see a doctor and maintain the PKU diet before becoming pregnant and during pregnancy to reduce the risk of high blood phenylalanine levels harming their unborn babies. Adults. People with PKU continue to receive care across the life span.
What foods can cause phenylalanine buildup?
A dangerous buildup of phenylalanine can develop when a person with PKU eats protein-rich foods, such as milk, cheese, nuts or meat, and even grains such as bread and pasta, or eats aspartame, an artificial sweetener. This buildup of phenylalanine results in damage to nerve cells in the brain.
What is the name of the condition where a defect in the gene causes phenylalanine to build up?
Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine.
Why do children with PKU need special diets?
But most children with the disorder still require a special PKU diet to prevent intellectual disability and other complications.
What is the most severe form of PKU?
The severity of PKU depends on the type. Classic PKU. The most severe form of the disorder is called classic PKU. The enzyme needed to convert phenylalanine is missing or severely reduced, resulting in high levels of phenylalanine and severe brain damage. Less severe forms of PKU.
