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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