Alkaptonuria: A case report

Odabas A., Karakuzu A., Selcuk Y., Erdem T., Cetinkaya R.

JOURNAL OF DERMATOLOGY, vol.28, no.3, pp.158-160, 2001 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 28 Issue: 3
  • Publication Date: 2001
  • Doi Number: 10.1111/j.1346-8138.2001.tb00111.x
  • Journal Name: JOURNAL OF DERMATOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.158-160
  • Keywords: akaptonuria, homogenitisic acid, metabolic disorder, ochronosis
  • Akdeniz University Affiliated: No

Abstract

Alkaptonuria is a rare, autosomally recessive, metabolic disorder caused by a deficiency in homogentisic acid oxidase. It results in accumulation and deposition of homogentisic acid in cartilage, eyelids, forehead, cheeks, axillae, genital regions, nail beds, buccal mucosa, larynx, tympanic eardrum, and the, tendons. We report a 33-year-old woman who presented with alkaptonuria and ochronotic pigment deposited in articular cartilage and cartilage of the ear and sclera.