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Describe phenylketonuria (patho, sxs, signs, treatment)

User Mayeru
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Final answer:

Phenylketonuria (PKU) is a metabolic disorder caused by a deficiency in the enzyme phenylalanine hydroxylase, which results in toxic levels of phenylalanine in the body. Symptoms include delayed neurological development, hyperactivity, seizures, and intellectual disability. Treatment involves following a strict diet low in phenylalanine.

Step-by-step explanation:

Phenylketonuria (PKU) is a metabolic disorder caused by a deficiency in the enzyme phenylalanine hydroxylase, which leads to the inability to break down phenylalanine properly. This results in toxic levels of phenylalanine accumulating in the body, leading to damage to the central nervous system and brain. Symptoms of PKU include delayed neurological development, hyperactivity, intellectual disability, seizures, rash, tremors, and uncontrolled movements. Pregnant individuals with PKU need to closely monitor their diet to avoid exposing the fetus to excess phenylalanine, which can cause developmental issues. Treatment for PKU involves following a strict diet low in phenylalanine and avoiding certain foods and sweeteners that are high in phenylalanine.

User AnovaVariance
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