What Are the Symptoms and Causes of Phenylketonuria

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The Answer is Phenylketonuria (PKU) is a genetic disorder that causes a buildup of phenylalanine in the body. This can lead to a variety of symptoms and health issues.

Symptoms of PKU can include developmental delays, intellectual disability, seizures, behavioral problems, and a musty odor in the breath, skin, or urine. If left untreated, PKU can also lead to severe intellectual disability.

The main cause of PKU is a genetic mutation that affects the enzyme responsible for breaking down phenylalanine. This mutation prevents the body from properly processing phenylalanine, leading to its accumulation in the body.

PKU is usually diagnosed through newborn screening, which allows for early intervention and treatment. Treatment for PKU typically involves a strict low-phenylalanine diet, which can help prevent the buildup of phenylalanine and reduce the risk of symptoms and complications.

It's important for individuals with PKU to work closely with healthcare professionals, including dietitians and genetic counselors, to manage their condition and ensure they receive the necessary support and care.

What Are the Symptoms and Causes of Phenylketonuria

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