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Neonatal phenylketonuria (PKU) primarily affects the metabolic system, specifically the body's ability to process the amino acid phenylalanine. Due to a deficiency in the enzyme phenylalanine hydroxylase, individuals with PKU cannot metabolize phenylalanine properly, leading to its accumulation in the blood. This can result in neurological damage and developmental issues if not managed with a strict diet low in phenylalanine. Early diagnosis and dietary intervention are crucial for preventing adverse effects on the nervous system.
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What does PKU stand for?
Phenylketonuria (PKU) is not an eating disorder. It is an inherited disorder which the body cannot break down phenylalanine, which is a part of protein. If PKU is not treated soon after birth, it can cause brain and nervous system damage.
What is the condition known as phenylketonuria?
Phenylketonuria (PKU) is an inborn error in metabolism that prevents the body from using phenylalanine, an amino acid necessary for normal growth and development.
A person who has what is unable to break down the amino acid phenylalanine?
A person with phenylketonuria (PKU) is unable to break down the amino acid phenylalanine due to a deficiency in the enzyme phenylalanine hydroxylase. This can lead to a build-up of phenylalanine in the body, which can be toxic to the brain and nervous system if not controlled through dietary restrictions.
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