KROK 1 2020 – Question 74 · KROK (Medicine) · Biological Chemistry
An infant developed darkened sclerae, mucosa, and auricles. The urine becomes dark, when exposed to the air. Blood and urine contain homogentisic acid. What is the most likely disease in this case?
- A. Cystinuria
- B. Hemolytic anemia
- C. Albinism
- D. Alkaptonuria
- E. Porphyria
Hint
Ask where in the catabolism of an aromatic amino acid a block would let homogentisic acid pile up, and what its oxidation does to urine and connective tissue.
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