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Exam questionKROK 1Medicine ยท 2020

A sick child 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 the symptoms characteristic of:

Answer options

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

Phenylketonuria

Explanation

A sick child 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 the symptoms characteristic of:

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