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A previously undiagnosed case of alkaptonuria: A case report

  • University of Mutah

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

Alkaptonuria is a rare metabolic disorder in the phenylalanine and tyrosine catabolic pathway which is characterized by the excessive excretion of homogentisic acid in the urine, ochronosis, and debilitating arthritis of the spine and large joints. Although it is a very rare disease in most ethnic groups, it is more common in some countries, such Slovakia and the Dominican Republic. In this report, we report a 58-year-old Jordanian female case with advanced clinical features of alkaptonuria.

Original languageEnglish
Pages (from-to)132-135
Number of pages4
JournalTurkish Journal of Rheumatology
Volume28
Issue number2
DOIs
StatePublished - 2013
Externally publishedYes

Keywords

  • Alkaptonuria
  • Arthritis
  • Dark urine
  • Homogentisic acid
  • Pigmentation

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