About Phenylketonuria

Learn more about symptoms, diagnosis and management plans for people with
phenylketonuria (PKU).

About Phenylketonuria

Learn more about symptoms, diagnosis and management plans for people with
phenylketonuria (PKU).

What is PKU?

Phenylketonuria (PKU) is a rare and serious genetic metabolic disorder that affects at least 1 in every 10,000 newborn infants. Sufferers are missing enzyme in their liver that should metabolise an amino acid in protein called Phenylalanine (Phe). Phe is a neurotoxin and when left untreated, the build-up of Phe in the blood and tissue can lead to seizures, brain damage and other serious neurological conditions.

How is PKU inherited?

PKU is a genetic condition passed on by parents who are carriers; they will not have any symptoms of the condition. When both parents are carriers, there is a 25% risk in each pregnancy that the child will inherit the condition, a 50% risk that the child will become a carrier, and 25% chance that the child will be unaffected.

Symptoms

Symptoms of phenylketonuria include seizures, tremors, or trembling and shaking, stunted growth, hyperactivity, skin conditions such as eczema and a musty odor of their breath, skin, or urine. The condition is highly serious and without treatment, patients can have delayed development, behavioral, emotional and social problems, psychiatric disorders and intellectual disability.

Diagnosis

In most countries, PKU is diagnosed as part of typical newborn blood spot screening. If PKU is confirmed, treatment starts immediately. PKU can be diagnosed as severe classic PKU, mild PKU or hyperphenylalaninaemia (HPA), a very mild mutation that often does not require treatment.

Treatment

There is no medical cure for PKU, but patients’ quality of life can be improved significantly with a range of dietary and treatment options.

Traditionally, PKU has been managed through a strictly controlled diet that avoids high protein foods and controls the intake of other foods, alongside specialized amino acid food supplements, such as Avonil powder and tablets.

New advances in PKU research have enabled a much more liberal diet plan for PKU patients. With Prekulab’s Large Neutral Amino Acid-based products PreKUnil and NeoPhe, it is possible to get up to 80% of your protein intake from natural protein, and the rest from low protein food and supplements. These clinically-proven products are available in a tablet or powder form and offer a unique way to reduce blood Phe and protect the brain from its effects.

PKU and pregnancy

Women with PKU who are planning a family should consult their dietician first. They are advised to follow a strict low protein diet guided by a medical specialist for a year or more before conceiving, throughout pregnancy, and through the postpartum period. They should seek specialist advice on their maternal PKU diet before becoming pregnant. Prekulab's taste and odour-free Avonil formulations are a PKU-management option during pregnancy.

About Phenylketonuria

Learn more about symptoms, diagnosis and management plans for people with
phenylketonuria (PKU).

What is PKU?

Phenylketonuria (PKU) is a rare and serious genetic metabolic disorder that affects at least 1 in every 10,000 newborn infants. Sufferers are missing enzyme in their liver that should metabolise an amino acid in protein called Phenylalanine (Phe). Phe is a neurotoxin and when left untreated, the build-up of Phe in the blood and tissue can lead to seizures, brain damage and other serious neurological conditions.

How is PKU inherited?

PKU is a genetic condition passed on by parents who are carriers; they will not have any symptoms of the condition. When both parents are carriers, there is a 25% risk in each pregnancy that the child will inherit the condition, a 50% risk that the child will become a carrier, and 25% chance that the child will be unaffected.

Symptoms

Symptoms of phenylketonuria include seizures, tremors, or trembling and shaking, stunted growth, hyperactivity, skin conditions such as eczema and a musty odor of their breath, skin, or urine. The condition is highly serious and without treatment, patients can have delayed development, behavioral, emotional and social problems, psychiatric disorders and intellectual disability.

Diagnosis

In most countries, PKU is diagnosed as part of typical newborn blood spot screening. If PKU is confirmed, treatment starts immediately. PKU can be diagnosed as severe classic PKU, mild PKU or hyperphenylalaninaemia (HPA), a very mild mutation that often does not require treatment.

Treatment

There is no medical cure for PKU, but patients’ quality of life can be improved significantly with a range of dietary and treatment options.

Traditionally, PKU has been managed through a strictly controlled diet that avoids high protein foods and controls the intake of other foods, alongside specialized amino acid food supplements, such as Avonil powder and tablets.

New advances in PKU research have enabled a much more liberal diet plan for PKU patients. With Prekulab’s Large Neutral Amino Acid-based products PreKUnil and NeoPhe, it is possible to get up to 80% of your protein intake from natural protein, and the rest from low protein food and supplements. These clinically-proven products are available in a tablet or powder form and offer a unique way to reduce blood Phe and protect the brain from its effects.

PKU and pregnancy

Women with PKU who are planning a family should consult their dietician first. They are advised to follow a strict low protein diet guided by a medical specialist for a year or more before conceiving, throughout pregnancy, and through the postpartum period. They should seek specialist advice on their maternal PKU diet before becoming pregnant. Prekulab's taste and odour-free Avonil formulations are a PKU-management option during pregnancy.

What is PKU?

Phenylketonuria (PKU) is a rare and serious genetic metabolic disorder that affects at least 1 in every 10,000 newborn infants. Sufferers are missing enzyme in their liver that should metabolise an amino acid in protein called Phenylalanine (Phe). Phe is a neurotoxin and when left untreated, the build-up of Phe in the blood and tissue can lead to seizures, brain damage and other serious neurological conditions.

How is PKU inherited?

PKU is a genetic condition passed on by parents who are carriers; they will not have any symptoms of the condition. When both parents are carriers, there is a 25% risk in each pregnancy that the child will inherit the condition, a 50% risk that the child will become a carrier, and 25% chance that the child will be unaffected.

Symptoms

Symptoms of phenylketonuria include seizures, tremors, or trembling and shaking, stunted growth, hyperactivity, skin conditions such as eczema and a musty odor of their breath, skin, or urine. The condition is highly serious and without treatment, patients can have delayed development, behavioral, emotional and social problems, psychiatric disorders and intellectual disability.

Diagnosis

In most countries, PKU is diagnosed as part of typical newborn blood spot screening. If PKU is confirmed, treatment starts immediately. PKU can be diagnosed as severe classic PKU, mild PKU or hyperphenylalaninaemia (HPA), a very mild mutation that often does not require treatment.

Treatment

There is no medical cure for PKU, but patients’ quality of life can be improved significantly with a range of dietary and treatment options.

Traditionally, PKU has been managed through a strictly controlled diet that avoids high protein foods and controls the intake of other foods, alongside specialized amino acid food supplements, such as Avonil powder and tablets.

New advances in PKU research have enabled a much more liberal diet plan for PKU patients. With Prekulab’s Large Neutral Amino Acid-based products PreKUnil and NeoPhe, it is possible to get up to 80% of your protein intake from natural protein, and the rest from low protein food and supplements. These clinically-proven products are available in a tablet or powder form and offer a unique way to reduce blood Phe and protect the brain from its effects.

PKU and pregnancy

Women with PKU who are planning a family should consult their dietician first. They are advised to follow a strict low protein diet guided by a medical specialist for a year or more before conceiving, throughout pregnancy, and through the postpartum period. They should seek specialist advice on their maternal PKU diet before becoming pregnant. Prekulab's taste and odour-free Avonil formulations are a PKU-management option during pregnancy.

Why PREKULAB?

Prekulab's mission is to improve the quality of PKU patients' life. Established in 1970, the firm is a specialist in the field of PKU research and products, and uses its substantial knowledge about the area to develop new solutions to help families and those affected by PKU to lead as normal a life as possible. It is a pioneer in the use of LNAA, allowing PKU patients to follow a more liberal diet plan. These advances allow patients to take control of their PKU and live a more ordinary life despite their condition. More information on Prekulab and its clinical research is available on the professionals page.

Why Prekulab?

Prekulab's mission is to improve the quality of PKU patients' life. Established in 1970, the firm is a specialist in the field of PKU research and products, and uses its substantial knowledge about the area to develop new solutions to help families and those affected by PKU to lead as normal a life as possible. It is a pioneer in the use of LNAA, allowing PKU patients to follow a more liberal diet plan. These advances allow patients to take control of their PKU and live a more ordinary life despite their condition. More information on Prekulab and its clinical research is available on the professionals page.

Connect with the PKU community

The following support groups and
forums offer further information on
phenylketonuria (PKU) along with
resources for parents and patients.

Connect with the PKU community

The following support groups and forums offer further information on phenylketonuria (PKU) along with resources for parents and patients.

NeoPhe Tablets and Powder

Our newest and most advanced LNAA product gives double protection from Phe, stopping it from entering the brain and also inhibiting entry to the blood. Clinically proven NeoPhe is available in odour and flavourless tablets and citrus-flavoured powder, and allows PKU patients to get up to 80% of their protein intake from a normal diet.

NeoPhe tablets    NeoPhe powder   

NeoPhe Tablets and Powder

Our newest and most advanced LNAA product gives double protection from Phe, stopping it from entering the brain and also inhibiting entry to the blood. Clinically proven NeoPhe is available in odour and flavourless tablets and citrus-flavoured powder, and allows PKU patients to get up to 80% of their protein intake from a normal diet.

NeoPhe tablets    NeoPhe powder   

PreKUnil Tablets

This advanced product pioneered the use of LNAAs in the treatment of phenylketonuria. It has been successful for PKU patients for more than 30 years. It is clinically proven to reduce Phe transport across the blood-brain barrier. PreKUnil allows PKU patients to get up to 80% of their protein intake from a normal diet. It is also suitable for late-diagnosed and untreated PKU.

PreKUnil tablets

PreKUnil Tablets

This advanced product pioneered the use of LNAAs in the treatment of phenylketonuria. It has been successful for PKU patients for more than 30 years. It is clinically proven to reduce Phe transport across the blood-brain barrier. PreKUnil allows PKU patients to get up to 80% of their protein intake from a normal diet. It is also suitable for late-diagnosed and untreated PKU.

PreKUnil tablets

Avonil Tablets and Powder

A conventional method for the management of PKU, Avonil contains all essential amino acids except Phe, plus multiple vitamins and minerals. Tablets are formulated for easy swallowing, while the powder is mixed with water or juice to drink. Tablets and powder are suitable for all ages, including children and during pregnancy, and must be combined with a restricted diet.

Avonil tablets    Avonil powder   

Avonil Tablets and Powder

A conventional method for the management of PKU, Avonil contains all essential amino acids except Phe, plus multiple vitamins and minerals. Tablets are formulated for easy swallowing, while the powder is mixed with water or juice to drink. Tablets and powder are suitable for all ages, including children and during pregnancy, and must be combined with a restricted diet.

Avonil tablets    Avonil powder   

Astrid's story

Looking towards an exciting future with PKU

  Read more  

Astrid's story

Looking towards an exciting future with PKU

  Read more  

Laura's story

Moving on to Large Neutral Amino Acids

  Read more  

Astrid's story

Looking towards an exciting future with PKU

  Read more  

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Laura's story

Moving on to Large Neutral Amino Acids

  Read more  

Contact a PKU expert

Ask our team about how Prekulab products
can help you or your child’s PKU.



  Contact us  

Contact a PKU expert

Ask our team about how Prekulab products can help you or your child’s PKU.



  Contact us  

Contact a PKU expert

Ask our team about how Prekulab products
can help you or your child’s PKU.



  Contact us  

Contact a PKU expert

Ask our team about how Prekulab products can help you or your child’s PKU.



  Contact us