Question
What is Phenylketonuria, and what are the symptoms?
Answer
Phenylketonuria is a common amino acid metabolism disorder caused by a lack of the enzyme needed to break down phenylalanine, leading to the accumulation of phenylalanine and its ketones in the body, which are then excreted through urine. The main symptoms include delayed intellectual development, neurological and psychiatric symptoms, eczema, skin streaking, pigment loss, abnormal body odor, and abnormal electroencephalogram. Early dietary treatment can help restore health for patients.