Phenylketonuria (PKU) - The importance of a lifelong low-protein diet

Early diagnosis and management are everything for those with Phenylketonuria (PKU). Don't miss this essential guide to understanding the causes, symptoms, and vital dietary strategies that can lead to a healthy, full life despite this rare genetic condition.

What are the main causes of Phenylketonuria?

• Phenylketonuria is an inherited metabolic disorder caused by a mutation in the PAH gene, which is passed down from both parents to a child.
• This genetic defect prevents the body from producing enough of an enzyme needed to break down an amino acid called phenylalanine found in protein.
• Without this enzyme, dangerous phenylalanine levels build up in the body, which can cause serious health problems, particularly affecting brain development and function.

Key symptoms of Phenylketonuria to watch for

• If untreated, symptoms can include intellectual disabilities, seizures, a musty odor in the breath or urine, and lighter skin and hair than family members.
• Behavioral, emotional, and social problems are also common signs, as well as neurological issues like tremors or jerky movements in the limbs.
• Fortunately, most phenylketonuria symptoms are avoided entirely in many countries thanks to routine and effective newborn screening for PKU shortly after birth.

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How is Phenylketonuria managed and treated?

• The cornerstone of treatment is a lifelong, strict PKU diet that is a low protein diet, carefully limiting the intake of phenylalanine-rich foods.
• Infants and children must consume a special PKU formula to ensure they receive all the necessary nutrients for growth without the harmful amino acid.
• Some patients may also benefit from medication like sapropterin, which can help the body break down phenylalanine and lower its levels in the blood.

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Living with PKU requires lifelong diligence and care. If you have concerns about this condition or your family's history, speak with a genetic counselor or healthcare provider to get accurate information and guidance for a healthy future.

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