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Alkaptonuria.

A Dogra1, G S Bajwa, N Bajwa

  • 1Department of Dermatology, Dayanand Medical College and Hospital, Ludhiana, Punjab, India.

Indian Journal of Dermatology, Venereology and Leprology
|August 1, 2007
PubMed
Summary
This summary is machine-generated.

Alkaptonuria, a rare metabolic disorder, causes dark urine, pigmentation, and joint pain. Diagnosis involves detecting homogentisic acid in urine.

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Area of Science:

  • Biochemistry
  • Genetics
  • Clinical Medicine

Background:

  • Alkaptonuria is a rare autosomal recessive metabolic disorder.
  • It results from a deficiency in the enzyme homogentisate 1,2-dioxygenase.
  • This leads to the accumulation of homogentisic acid.

Purpose of the Study:

  • To report a case of alkaptonuria.
  • To highlight the clinical presentation and diagnostic confirmation.

Main Methods:

  • Clinical observation of patient symptoms.
  • Biochemical analysis of urine for homogentisic acid detection.

Main Results:

  • The patient presented with characteristic symptoms: dark urine, cutaneous and scleral pigmentation, and joint pain.
  • Homogentisic acid was detected in the patient's urine, confirming the diagnosis.

    • Conclusions:

    • This case illustrates the typical presentation of alkaptonuria.
    • Early diagnosis through biochemical testing is crucial for managing the condition.