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    SubjectsMedicineOchronosis Alkaptonuria Ear Cartilage
    ClinicalMedicine

    Ochronosis Alkaptonuria Ear Cartilage

    1 MCQs in Medicine for NEET PG

    1 Medium
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    Sample Questions

    medium

    A 46-year-old male hospital porter presents with progressive low back pain, knee stiffness, and restricted chest expansion over 15 years. His family reports that his urine turns black when left overnight. On examination, the structure marked **A** — blue-black discolouration of the auricular cartilage (helix and antihelix) — is visible bilaterally. Similar pigmentation is noted in the sclerae at the insertion of the rectus muscles. Urinalysis confirms that urine becomes jet-black after standing for 4 hours. Elevated urinary homogentisic acid is confirmed by HPLC. Which of the following is the PRIMARY BIOCHEMICAL DEFECT underlying this clinical presentation?

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