KROK 1 2020 – Question 75 · KROK (Medicine) · Biological Chemistry

Mother of a 5-year-old child complains that her child develops itching skin, erythema, and vesicular rash after exposure to the sun. Blood test revealed low levels of iron in the blood serum. Urine contains increased levels of uroporphyrinogen I. What hereditary pathology is the most likely in this child?

  1. A. Coproporphyria
  2. B. Erythropoietic porphyria
  3. C. Intermittent porphyria
  4. D. Hepatic porphyria
  5. E. Methemoglobinemia
Hint

Combine the early-childhood photosensitivity with the isomer type of the heme precursor in the urine and ask which enzyme step of heme synthesis has failed.

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