A sick child presents with high content of phenyl pyruvate in urine (normally it is practically absent). Blood phenylalanine level is 350 mg/L (norm – 15 mg/L). What disease are these symptoms characteristic of?

Answer options

1. Albinism
2. Tyrosinosis
3. Phenylketonuria
4. Gout
5. Alkaptonuria

Explanation

A sick child presents with high content of phenyl pyruvate in urine (normally it is practically absent). Blood phenylalanine level is 350 mg/L (norm – 15 mg/L). What disease are these symptoms characteristic of?Phenylketonuria: phenyl ketoacids in urine, pyruvate is a ketoacid.