Question
What is Phenylketonuria? What are the Symptoms?
Answer
Phenylketonuria is a genetic metabolic disorder. Due to reduced activity of phenylalanine hydroxylase or a deficiency in its cofactor tetrahydrobiopterin, the metabolic process of converting phenylalanine to tyrosine is blocked, resulting in elevated levels of phenylalanine in the blood and tissues, and significant increases in phenylpyruvate, phenylacetic acid, and phenyllactic acid in the urine, hence the name “phenylketonuria.” Symptoms of phenylketonuria may include delayed intellectual development, abnormal skin and hair color, increased or decreased muscle tone. Early diagnosis and treatment are crucial for improving the quality of life for patients, typically through dietary control and medication to reduce phenylalanine levels in the blood.