Question
A newborn has been tested positive for phenylketonuria, currently showing no special symptoms. I hope to understand the cause and prognosis.
Answer
Phenylketonuria is a genetic disorder that is usually discovered during infancy through screening. This condition causes an increase in phenylalanine levels, which can affect brain development and may lead to symptoms such as intellectual disability, seizures, and hyperpigmentation of the skin. Early diagnosis and treatment are crucial in preventing these complications. Treatment methods typically include a low-phenylalanine diet and medication to help control phenylalanine levels.