what happens if you dont treat pku

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What happens if you don't treat phenylketonuria?

Can a pregnant woman have a low phenylalanine diet?

Can PKU cause unstable moods?

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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.

What is the life expectancy with someone with PKU?

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.

What would happen if a child was born with PKU and not detected?

If PKU in a child is not diagnosed and treated, phenylalanine will build up in the bloodstream until it reaches levels that can cause brain damage. It can also cause permanent damage to organs and tissues around the body.

Is PKU damage reversible?

PKU is a reversible neurodegenerative process within the nigrostriatum that begins as early as 4 weeks of age in Pahenu2 mice.

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.

Can you grow out of 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.

Can PKU cause autism?

In the group of 35 patients diagnosed late, two boys (5.71%) ages 16 and 13 years fulfilled the diagnostic criteria for autism. The present study confirms that classical PKU is one of the causes of autism, but the prevalence seems to be very low.

How does PKU cause brain damage?

The high plasma phenylalanine concentrations increase phenylalanine entry into brain and restrict the entry of other large neutral amino acids. In the literature, emphasis has been on high brain phenylalanine as the pathological substrate that causes mental retardation.

Can you live a normal life with PKU?

If treatment is started within the first four weeks of life, people with PKU fall within the broad normal range of general ability and adults should lead independent lives, although outcome is dependent on metabolic control.

Does PKU affect IQ?

In addition to neurotransmitter deficiency, PKU is associated with widespread compromise of the white matter of the brain [3–6]. Untreated PKU typically results in profoundly lowered IQ and intellectual disability [7,8].

Can PKU cause ADHD?

Although patients are regularly treated from birth, PKU can be an important risk factor for the development of ADHD.

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.

Can babies with PKU live a normal life?

Treatment includes a special diet and regular blood tests. With early diagnosis and the correct treatment, most children with PKU are able to live healthy lives. About 1 in 10,000 babies born in the UK has PKU.

Does PKU resolved by adulthood?

Individuals with early-treated PKU can achieve normal or near-normal IQ if they maintain good metabolic control through dietary restriction until the age of 12, but even after this age there is a correlation between current phenylalanine levels and IQ among individuals aged between 0 and 39 years [13].

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.

Can people with PKU drink alcohol?

Drinking and Having PKU Alcohol changes your brain processing and interferes with your judgment. High blood phe levels + alcohol dramatically increases these effects. “It doesn't take much”. Even one drink together with high blood phe levels can significantly impair your thinking.

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.). The PKU Diet. People with PKU need to follow a diet that limits foods with phenylalanine.

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. Other ...

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 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, ...

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.

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.

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.

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 is the treatment for phenylketonuria?

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.)

What foods should pregnant women avoid with PKU?

3. People with PKU need to avoid various high-protein foods, including: Milk and cheese. Eggs.

Is phenylalanine needed for growth?

The goal is to eat only the amount of phenylalanine necessary for healthy growth and body processes but not any extra. Frequent blood tests and doctor visits are necessary to help determine how well the diet is working.

Can you stop eating phenylalanine?

People with PKU need to follow a diet that limits foods with phenylalanine. The diet should be followed carefully and be started as soon after birth as possible. In the past, experts believed that it was safe for people to stop following the diet as they got older. However, they now recommend that people with PKU stay on the diet throughout their lives for better physical and mental health. 1, 2

Can a PKU be given formula?

A PKU Formula. People who follow the PKU diet will not get enough essential nutrients from food. Therefore, they must drink a special formula. A newborn who is diagnosed with PKU should receive special infant formula.

Can you eat aspartame if you have PKU?

People with PKU also need to avoid the sweetener aspartame, which is in some foods, drinks, medications, and vitamins. Aspartame releases phenylalanine when it is digested, so it raises the level of phenylalanine in a person's blood. 1

How to help people with PKU?

Talking with others who have mastered similar challenges can be very helpful. The National PKU Alliance is an online support group for adults with PKU.

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.

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.

How to identify a PKU carrier?

It's possible to identify PKU carriers through a blood test.

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 tests can be done to confirm a baby has PKU?

If this test indicates your baby may have PKU: Your baby may have additional tests to confirm the diagnosis, including more blood tests and urine tests. You and your baby may have genetic testing to identify gene mutations.

What is the best treatment for PKU?

Treatment. The only treatment for PKU is to avoid eating foods that contain phenylalanine. Babies are put on a special formula that does not contain phenylalanine. Phenylalanine is found in most protein-containing foods, so people with PKU are advised to follow a special low-protein diet.

What is Phenylketonuria (PKU)?

Phenylketonuria (PKU) is a rare genetic (inherited) disorder that can cause abnormal mental and physical development if not detected promptly and treated appropriately.

Why do babies with PKU have lower melanin levels?

That's because when phenylalanine is broken down, one of its products is used to make melanin.

How early can you start a diet for PKU?

The outlook depends on how early an infant with PKU is diagnosed and begins the special diet. It also depends on how strictly and consistently the diet is followed throughout life. Infants with PKU who are identified within the first few days after birth and are put on a strict diet before 3 weeks of age have the best prognosis. They usually do not experience severe developmental delay or mental retardation.

How many copies of the gene do you have to have to have PKU?

PKU occurs when a baby inherits 2 copies of the specific gene that causes PKU, 1 from each parent. Each parent usually has only 1 copy of the gene and therefore doesn't have PKU. Because the parents don't know they are carrying the gene, there is nothing they can do to prevent their babies from having the disorder.

What happens if you have too much phenylalanine?

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.

What are the symptoms of phenylalanine in urine?

Other signs and symptoms may include irritability, muscle stiffness, seizures, a small head and short stature.

What happens if a child has PKU?

If PKU in a child is not diagnosed and treated, phenylalanine will build up in the bloodstream until it reaches levels that can cause brain damage. It can also cause permanent damage to organs and tissues around the body. PKU can lead to: Developmental delays.

How is PKU treated?

PKU is treated with a special diet. Newborn babies who test positive for PKU are placed on phenylalanine-free formula right away. If you are a woman with PKU, your healthcare provider may advise genetic counseling. You can discuss with a counselor the risk of PKU in a future pregnancy.

What is phenylketonuria (PKU) in children?

Phenylketonuria (PKU) is a rare metabolic disorder. Children with PKU can’t process an amino acid called phenylalanine. Phenylalanine is in many common foods. It helps the body make protein. It's also important for brain growth. It's normally changed to tyrosine, which helps create all of the body's proteins. But with PKU, the amino acid can build up in the bloodstream and cause harm. PKU is found with a simple blood test. All newborn babies in the U.S. are screened for PKU.

What are the symptoms of PKU in a child?

If a baby is not tested and has undiagnosed PKU, he or she may show signs or symptoms at several months old. Some babies with PKU may seem more drowsy and listless than normal. They may have feeding problems. As they continue to take in protein and phenylalanine through their diets, they may have growth, mood, behavior, and thinking problems, as well as other problems. Symptoms can range from mild to severe based on how much phenylalanine is in the blood.

How is PKU diagnosed in a child?

All newborn babies in the U.S. are screened for PKU with a blood test. If you adopt a child from another country, he or she may need to be screened for PKU and other genetic diseases.

What are possible complications of PKU in a child?

This can cause low birth weight, slow growth, small head, behavior problems, and heart disorders. These mothers are also at risk for pregnancy loss.

How can I help prevent PKU in my child?

Women with PKU who are of childbearing age should be careful to follow a strict low-protein diet. Your healthcare provider may advise genetic counseling. You can discuss with a counselor the risk for PKU in a future pregnancy.

How much phenylalanine is in PKU?

Recent studies show that high phenylalanine levels (above about 14-15 mg/dl (840-900 mol/l) in PKU patients who have the more serious forms of the genetic defect may cause continued neurological damage in adulthood. One of my biggest problems is talking people into going back on the diet.

Is there a case study of PKU?

Are there more such cases not reported in the scientific literature? Almost certainly. Case studies are not commonly written or published these days. And doctors treating adults may not associate their problems with PKU, or even know about the PKU.

Can phenylalanine be continued?

The data reported in this study strongly support the conclusion that dietary phenylalanine restriction should be continued into adulthood. The data also show that late-treated adults with PKU can do surprisingly well when continued on diet treatment.

Is phenylalanine high in PKU?

It mentioned the lower I.Q.’s and other problems that can develop due to high phenylalanine levels. It also pointed out the danger of high levels to the unborn children of pregnant women with PKU. In an interview, Dr. Koch goes on to say, Many PKU adults who have abandoned the diet may not know they are still at risk.

Is there a mental illness in PKU?

There appears to be a definite increase in the incidence of mental illness and psychological disorders in the off-diet PKU population. For example, a recent paper by Fisch (1995) studied nineteen early-treated adults with PKU who had been off the diet for at least 12 years (range of 12-28 years off diet). Five (26%) of the group had evidence of mental disease. This included two with depression, one with impulse control disorder, one with a phobia, and one with mental distress. A study by Waisbren (1991) describes agoraphobia (fear of leaving the house) in five adult patients who had stopped the diet in childhood. Those who restarted the diet had a dramatic reduction in symptoms. Other off-diet adults who were studied showed a tendency to social withdrawal and fear of leaving home, but not overt agoraphobia. Waisbren (1994) describes a greater prevalence of thought disorders and mood disturbances associated with stopping the diet in their study of twenty-eight young women. They concluded that if a woman with PKU is late-treated or off-diet for at least five years, she will be at risk for developing some type of emotional disorder. She will also be more likely to receive psychological counseling and to be on medications for psychological problems. (Males with PKU were not studied.)

Is stopping the diet harmful?

These data confirm earlier reports that suggest stopping the diet is harmful not only to intellectual development, but also to social functioning. The intellectual and academic achievement of Group 2 is significantly inferior to Group 1; also, their social adaptation is poor. Unemployment, out-of wedlock pregnancies, and welfare assistance is greater in this group.

Is it safe to have high phenylalanine levels?

The simple conclusion we can come to from all of these reports is that high blood phenylalanine levels are not safe for anyone; they never have been, they never will be. We know that high levels of phenylalanine alter metabolic balance in very far reaching ways, from disturbing neurotransmitters to interfering with brain myelin.

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 to help someone with PKU?

Friends play a very special role in helping the person with PKU. It is very hard to constantly be faced with food temptations when you are trying to stick to a special diet. Understanding the challenges of living with PKU and offering a listening ear to frustrations will be really helpful.

How often do people with PKU test their blood?

People with PKU test their blood every month by pricking their fingers and applying blood to a special blood dot card. The card is sent to the lab where the level of phe in their blood can be determined. A good phe level is 6 or less for life.

How does phenylalanine affect the baby?

When a woman becomes pregnant, she supports her baby by sharing nutrients from her diet, as well as oxygen through the placenta and the umbilical cord. Phenylalanine, like other amino acids, can cross the placenta to the baby. There is a 1.5:1 gradient of PHE across the placenta. This means that the baby is exposed to a higher concentration of PHE than what is in the pregnant woman’s blood. Because of this gradient, blood PHE levels that are safe for non-pregnant adults are harmful to the baby. The higher the blood PHE level in the Mom, the greater the damage there is to the developing baby.

How to get a healthy PHE?

In order to get blood PHE levels in the safe range, Mothers will need to drink a special drink (formula) in order to provide adequate PHE-free protein for the baby to grow. They will also need to carefully watch their dietary intake of phenylalanine by keeping daily food records and doing blood work twice a week (or more) to monitor their blood phe levels.

What happens if you eat too much protein?

If the person with PKU eats too much protein, phe builds up in the blood. Remember the groceries and how the refrigerator was locked? Phe will build up in the blood like the groceries building up outside the refrigerator door.

Where do people with PKU get their protein?

Where do they get their protein if they can’t eat it? They drink it! The special medical formula that people with PKU drink provides all the building blocks of protein except phe. It also gives them the vitamins and minerals they need. This special formula is a lot like the protein drinks that body builders use.

What are the symptoms of high phe?

Other symptoms related to high phe levels include poor judgement, skin problems (eczema), headaches, lack of energy, mood swings, lack of ability to concentrate, loss of short term memory, poor performance in school or inability to hold a job, muscle weakness and poor personal relationships. High phe levels are not safe.

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 a pregnant woman have a low phenylalanine diet?

Pregnant Women with PKU who do not strictly follow a low-phenyla lanine diet may give birth to a child with serious problems, including intellectual and developmental disabilities, a head that is too small (microcephaly), heart defects, and low birth weight. 5 Read more about maternal PKU.

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

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• Untreated PKU can lead to complications in infants, children and adults with the disorder. When women with PKUhave high blood phenylalanine levels during pregnancy, it can harm their unborn baby. Untreated PKUcan lead to: 1. Irreversible brain damage and marked intellectual disability beginning within the first few months of life 2. Neurological pr...

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What Is Phenylketonuria (PKU)?

• Starting treatment early and continuing treatment throughout life can help prevent intellectual disability and major health problems. The main treatments for PKUinclude: 1. A lifetime diet with very limited intake of foods with phenylalanine 2. Taking a PKUformula — a special nutritional supplement — for life to make sure that you get enough essent...

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• Newborn babies with PKU usually do not show any symptoms, although they may be irritable, vomit or feed poorly . If babies are untreated they start to show developmental delays at a few months of age and the delays can become very severe. Children with PKU have lower levels of melanin, the substance that gives color to hair and skin. That's because...

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