Question
What are the causes of Phenylketonuria (PKU)?
Answer
Phenylketonuria (PKU) is a common amino acid metabolism disorder caused by enzyme defects in the metabolic pathway of phenylalanine (PA), which prevents phenylalanine from being normally converted to tyrosine, resulting in the accumulation and excessive excretion of phenylalanine and its ketones in the body. This condition is usually associated with genetic amino acid metabolism defects and is inherited in an autosomal recessive manner. The main clinical features of PKU include delayed intellectual development, symptoms of the mental and nervous system, eczema, skin excoriation, pigment loss, abnormal body odor, and abnormal Brain Electroencephalogram. Early diagnosis and timely treatment can prevent patients from developing these clinical symptoms.