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Calculi and intracellular ochronosis in the submandibular tissues from a patient with alkaptonuria.

Research output: Contribution to Journal/MagazineJournal articlepeer-review

  • Adam Taylor
  • Peter J. M. Wilson
  • D. R. Ingrams
  • T. R. Helliwell
  • James A. Gallagher
  • L. R. Ranganath
<mark>Journal publication date</mark>02/2010
<mark>Journal</mark>Journal of Clinical Pathology
Issue number2
Number of pages3
Pages (from-to)186-188
Publication StatusPublished
<mark>Original language</mark>English


Alkaptonuria (AKU) is a rare autosomal recessive condition caused by deficiency of the enzyme homogentisate 1,2 dioxygenase, resulting in widespread deposition of oxidised homogentisic acid (HGA) polymer, primarily in joint tissues but also in other connective tissues. Macroscopic pigmentation of connective tissues in AKU is well documented and is the end point of a process that is not understood. Deposition in less common regions may provide clues to the pigment formation process. This is the first report of detection of ochronotic pigment in acinar cells and lumina in the submandibular gland of a patient with AKU. Deposition was noted in the apical region of the cells. A lobar duct presented a large calculus with unusual deposits possibly associated with calcium salts. This report highlights the effect that local and intracellular factors may have on converting HGA into polymeric derivatives in the absence of an extracellular matrix.