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Alkaptonuria.

B N Singh, S Mehrotra, B Bhargava

    The Journal of the Association of Physicians of India
    |November 1, 1989
    PubMed
    Summary
    This summary is machine-generated.

    Alkaptonuria, a rare genetic disorder, can lead to ochronosis, arthropathy, and prostatic calculi. This case highlights a unique presentation with liver failure and Hepatitis B infection.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Clinical Medicine

    Background:

    • Alkaptonuria is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme homogentisate 1,2-dioxygenase.
    • This deficiency leads to the accumulation of homogentisic acid, which polymerizes and deposits in connective tissues, causing ochronosis and its associated complications.

    Observation:

    • A patient presented with a complex manifestation of alkaptonuria.
    • Sequelae included ochronosis, ochronotic arthropathy, spondylitis, and prostatic calculi.
    • Notably, the patient also exhibited hepatocellular failure and hepatitis B surface antigenaemia.

    Findings:

    • The case underscores the diverse clinical spectrum of alkaptonuria.
    • The co-occurrence of hepatocellular failure and Hepatitis B infection in an alkaptonuria patient is a significant clinical observation.

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  • Prostatic calculi are a rare but documented complication of alkaptonuria.

    • Implications:

    • This case broadens the understanding of alkaptonuria's systemic impact.
    • It highlights the importance of considering metabolic disorders in patients with unexplained liver dysfunction and Hepatitis B.
    • Further research may elucidate potential interactions between alkaptonuria and viral hepatitis.