Question
What is the relationship between phenylketonuria and hyperphenylalaninemia?
Answer
Phenylketonuria and hyperphenylalaninemia are actually the same condition, both being amino acid metabolic disorders. Due to enzyme defects in the phenylalanine metabolic pathway, phenylalanine cannot be converted into tyrosine, leading to the accumulation of phenylalanine and its ketoacids, which are then excreted in large quantities in the urine. Clinically, the disease is characterized by intellectual disability, seizures, and reduced pigmentation. This condition is classified as autosomal recessive inheritance. Therefore, it is clear that phenylketonuria and hyperphenylalaninemia share the same fundamental pathological basis.