KROK 1 2018 – Question 143 · KROK (Medicine) · Biological Chemistry

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?

  1. A. Gout
  2. B. Albinism
  3. C. Phenylketonuria
  4. D. Alkaptonuria
  5. E. Tyrosinosis
Hint

Look at which amino acid is raised in the blood and which keto acid spills into the urine, then ask which step of that amino acid's normal conversion must be blocked.

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