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Exam questionKROK 1Medicine ยท 2011

Urine analysis of a 12-year-old boy reveals high concentration of all aliphatic amino acids with the highest excretion of cystine and cysteine. US of kidneys revealed kidney concrements. What is the most likely pathology?

Answer options

  1. Alkaptonuria
  2. Cystitis
  3. Hartnup disease
  4. Phenylketonuria
  5. Cystinuria
Correct answer

Cystinuria

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