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Phenylketonuria

Definition

Phenylketonuria (PKU) is a rare genetic condition that is present from birth (congenital). In PKU, the body is unable to break down a chemical called phenylalanine which then builds up in the blood and in the brain.

Left untreated, high phenylalanine levels disrupt the normal development of a child’s brain and can cause severe learning difficulties. A person with the most severe learning difficulties has mental abilities similar to those you would expect to see in a one or two year old infant and would require 24 hour care for the whole of their life.

Phenylalanine

Phenylalanine is an amino acid. Amino acids are the ‘building blocks’ that the body uses to assemble proteins and other complex chemicals, such as some neurotransmitters (‘messenger chemicals’ that are used to transmit information around the brain).

The main source of phenylalanine for humans is food that is high in protein such us:

  • meat
  • fish
  • eggs
  • cheese
  • milk

Genetic mutation

PKU is caused by a genetic mutation. A genetic mutation is where some of the instructions that are found in all living cells become scrambled, causing certain cells to no longer work in the right way.

In most people the phenylalanine that is found in food is broken down by an enzyme known as phenylalanine hydroxylase (PAH). Proper breakdown of phenylalanine is needed for the body to make certain neurotransmitters.

In people with PKU, the PAH enzyme does not work properly due to the genetic mutation. As a result, the phenylalanine levels in the blood and other tissues rise. Phenylalanine is thought to have a toxic (poisonous) effect on the brain, resulting in brain damage and learning difficulties.

The treatment for PKU is both simple and effective.  It involves following a special, low-protein diet and taking regular dietary supplements which contain amino acids, vitamins and minerals. The aim is to keep the blood phenylalanine level within a specific target range.  The target range changes with age; the diet is very strict in early childhood but can be gradually relaxed as people get older.

How common is PKU?

PKU is a very rare condition. It is estimated that only 1 in every 12,000 babies born in the UK will have PKU.

Both sexes are affected equally by PKU. The condition is slightly more common in white people, particularly those of Celtic descent (Scottish, Irish and Welsh). It is very rare in black people and those of Japanese descent.

Screening

All newborn babies who are born in the UK, and those who are born in other developed countries, are routinely screened for high phenylalanine levels using the heel prick test which is carried out during the first week of a baby’s life. The heel prick test involves taking a blood sample from the baby’s heel to test for a number of rare, but serious, conditions, such as PKU.

If a high phenylalanine level is found on screening and confirmed by further testing, the baby will immediately be started on a low protein diet and a special supplement. Regular testing ensures that the phenylalanine level remains low. Keeping phenylalanine levels within the target range will prevent any damage to the brain and ensure that the child grows up with normal levels of intelligence.

Outlook

With treatment, the outlook for PKU is excellent. As long as a person with the condition sticks to a  low protein diet throughout childhood their natural intelligence should be unaffected.  Many adults find that the dietary restrictions can be challenging and annoying.  Fortunately, if phenylalanine levels rise in adulthood, intelligence is not affected although symptoms such as poor concentration and short temper can occur.

Without treatment early in life, the outlook for PKU is very poor. Most people will develop severe learning disabilities and will require constant care.

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Symptoms

Most babies with phenylketonuria (PKU) will appear healthy at birth.

Treated PKU

If dietary treatment is started within the first three weeks of life, people with PKU should not experience the severe learning difficulties that are associated with the condition.

Some children and adults with PKU do experience mild to moderate problems with certain high-level mental abilities and activities such as:

  • attention
  • planning
  • problem solving

However, these problems are usually related to the increased blood phenylalanine level and will improve with stricter treatment.

There is also evidence that adults with PKU may be more likely to develop certain mental health problems at some point in their life compared with the population at large. The most widely reported conditions in people with PKU are:

  • depression - feelings of extreme sadness that last for weeks or months
  • anxiety disorders - feelings of unease, such as worry or fear, that can be mild or severe
  • phobias, particularly agoraphobia - which is an intense fear of certain situations, such as being in crowded places or leaving home
  • low self-esteem

It is uncertain whether the increased risk of developing these types of conditions is related to metabolic abnormalities, such as a reduction in the neurotransmitters (brain chemicals), which affect mood. 

Alternatively, the increased risk of developing mental health conditions could be the result of the stress and anxiety that is caused by constantly having to worry about your diet. It may be that the increased risk is due to a combination of both of these factors.

Untreated PKU

A wide range of symptoms can occur if treatment for PKU is not started or delayed. The most common symptom of PKU is a learning disability. Usually, the longer treatment is delayed, the more severe the learning disability becomes.

Intelligence is measured using a type of test known as the intelligence quotient or IQ test. A person with average intelligence will score 100 in an IQ test (have an IQ of 100).

If a person with severe PKU is never treated, they will usually have an IQ score of less than 50 and require a lot of help with everyday activities. Even if PKU is not diagnosed on newborn screening, it is worth starting dietary treatment as it is sometimes possible to reverse some of the decline in intelligence. For example, in one case where a child’s treatment was delayed until they were two years of age, they went from having a moderate learning disability to having average intelligence. 

Other symptoms of untreated PKU include:

  • behavioural difficulties, such as frequent temper tantrums and episodes of self-harm
  • very fair skin and hair 
  • eczema
  • epilepsy - a condition that affects the brain and causes a person to have repeated fits (seizures)
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Causes

Genetic mutation

Phenylketonuria (PKU) is caused by a genetic mutation in a gene that is known as the human PAH gene. A gene is a single unit of genetic material. A genetic mutation occurs when the instructions that are carried in certain genes become ‘scrambled’. This results in some of the body’s processes not working in the normal way.

There are over 100 different types of mutation that can affect the PAH gene, all of which result in the same outcome. The body does not produce an enzyme that is needed to break down phenylalanine before reassembling it into more complex chemicals. This leads to the high levels of phenylalanine that are associated with PKU. Enzymes are proteins that speed up and control chemical reactions in the body.

Autosomal recessive mutation

All the genes in your body come in pairs. You receive one half of the pair from your mother and the other half from your father.

The mutation that causes PKU is an autosomal recessive mutation. This means that you need to receive two copies of the mutated gene in order to develop the condition - one from your mother and one from your father.

You will not develop PKU if you only receive one copy of the mutated gene from one of your parents, but you will carry the mutated gene.

If you are a carrier of the mutated gene and you conceive a baby with a partner who is also a carrier there is a:

  • 1 in 4 chance that the baby will receive a pair of normal genes
  • 1 in 2 chance that the baby will receive one normal gene and one mutated gene and become a carrier of the mutated PAH1 gene but will not develop any symptoms.
  • 1 in 4 chance that the baby will receive a pair of mutated genes and develop PKU
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Diagnosis

Newborn screening

All new born babies are routinely screened for phenylketonuria (PKU) by way of a blood test that is usually carried out about a week after a baby is born.

A sample of your baby’s blood will be taken using a heel prick and sent to a laboratory where the levels of phenylalanine will be measured. If the levels are unusually high, a second blood sample will be taken to confirm the diagnosis. See Phenylketonuria - causes for more information about the genetics of PKU.

If the second test confirms high phenylalanine levels, you will be referred to a doctor who specialises in treating cases of PKU. You will also be referred to a dietician who is a healthcare professional with an interest in diet and nutrition. The dietician will be able to advise you about the changes that need to be made to your baby’s diet. See Phenylketonuria - treatment for more information.

Regular blood tests

After a diagnosis of PKU has been confirmed, your child will need to have regular blood tests to measure the levels of phenylalanine in their blood to assess how well they are responding to treatment.

It is recommended that children who are:

  • six months of age or younger should have their blood tested once a week
  • between six months and four years of age should have their blood tested once every two weeks
  • over four years of age and all adults should have their blood tested once a month

Someone with PKU will usually need to continue having regular blood tests throughout their life.

It may be possible for you to receive training so that you can carry out your child’s blood tests, or if you have PKU, so that you can test yourself. This will help to make testing more convenient.

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Treatment

Low protein diet

A low protein diet is the main type of treatment for phenylketonuria (PKU).  

Your dietician will be able to draw up a detailed dietary plan for your child and they will also be able to help revise the plan over time as your child gets older and their needs change.

It is beyond the scope of this article to provide a complete overview of all the recommendations and information regarding low protein diets. For more detailed information and advice, the National Society for Phenylketonuria (NSPKU) website has a section that provides dietary information. The NSPKU is the UK’s leading charity for people with PKU.

In general terms, the NSPKU recommend a ‘traffic light’ approach to diet where foods are categorised as follows:

  • green foods - are those that are safe to eat because they contain very low levels of protein, although they should not be eaten to excess
  • amber foods - contain protein and must be carefully weighed; they will be eaten in different quantities according to your blood phenylalanine level
  • red foods - should never be eaten under any circumstances

Below are examples of green, amber and red foods.

Green foods

Examples of green foods include:

  • fresh fruit with the exception of bananas, figs and dates
  • most vegetables with the exception of asparagus, bean sprouts, broccoli, Brussels sprouts and cauliflower

There are also a number of specially designed low protein versions of popular products, such as flour, rice and pasta that are specifically designed for people with PKU and related conditions. Many of these special foods are available on prescription so you will not have to pay the full price for them.

Amber foods

Examples of amber foods include:

  • cornflakes
  • chips
  • baked beans
  • milk - a specially designed formula can be used as a milk substitute for babies and children
  • normal rice

Red foods

Examples of red foods include:

  • all types of meat
  • eggs
  • fish
  • cheese
  • beer -  lager and bitter
  • any food that has been baked using flour, such as bread

Dietary Supplements

As well as sticking to a low protein diet, people with PKU will also have to take regular dietary supplements. These contain all the essential nutrients that are absent from the low protein diet.  The supplements contain a mixture of all the amino acids (apart from phenylalanine) that are essential for the body to grow and remain healthy. Supplements are available in various different forms, including powders, drinks and tablets and need to be taken three or four times a day.

Aspartame

People with PKU also have to avoid food products that contain aspartame. Aspartame is an artificial sweetener that can be found in:

  • sugar substitutes, such as artificial sweeteners that are often used in tea and coffee
  • diet versions of fizzy drinks
  • chewing gum
  • squashes and cordials
  • some alcopops

All food products that contain aspartame or a related product should state on the packet ‘contains a source of phenylalanine’.

There are also a number of medications that contain aspartame, such as some cold and flu remedies for children. It is a legal requirement for any medication that contains aspartame to state it on the patient information leaflet that comes with the medication.

You should always make sure you read the patient information leaflet carefully before giving any medication to your child.

Sapropterin

Sapropterin is a new type of medication that has proved to be effective at reducing the level of phenylalanine in some children and adults with PKU. Sapropterin is a synthetic form of a vitamin which helps the PAH enzyme to work better. However, sapropterin only works for some types of PKU, depending on precisely which PAH gene mutation is present.

Sapropterin is available in tablet form. The amount of tablets your child will need to take will depend on their body weight - the more they weigh, the more tablets they will require. A person with PKU who is treated with sapropterin may be able to relax their diet, although it is unlikely that they will be able to eat normally.

Sapropterin is a very expensive medication; it costs more than £100,000 a year to treat an adult.  As PKU is a very rare condition, the National Institute of Health and Clinical Excellence (NICE) is not going to make any recommendations about its use in the NHS. This means that it is up to individual health boards to decide whether to use sapropterin.

Due to the high cost of sapropterin, the fact that it is only effective in a small number of patients and the fact that diet is such an effective treatment for PKU, it is currently very unusual for someone in the UK with PKU to be treated with sapropterin.

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