Skip to main content
padlock icon - secure page this page is secure

Alkaptonuria, Ochronosis and Ochronotic Arthropathy in Mainland France and the Reunion Island. A Report of Clinical and Molecular Findings in 29 Patients

Buy Article:

$63.00 + tax (Refund Policy)

Alkaptonuria is a rare autosomal recessive disorder caused by the absence of homogentisate 1,2 dioxygenase (HGD) in the liver. Ochronosis and arthropathic ochronosis are characteristic sequelae of this metabolic disorder. We report here the clinical and molecular findings in 29 alkaptonuric patients (17 males and 12 females) from mainland France and the Reunion Island. We searched for living members of theses families, 14 to 45 years after their observations were described in the literature, and performed molecular analysis and a clinical evolution of the most relevant organ systems involved by ochronosis. Molecular data from 16 families, revealed the presence of six missense mutations at homozygous (p.Y62C, p.W97G, p.V181F, p.V300G) or heterozygous state (p.D153G, p.V300G and p.M368V), four frameshift mutations at homozygous (p.G152fs and p.T196fs) or heterozygous state (p.F10fs and p.R58fs) and three splice site mutations at heterozygous state (IVS1-1G > A, IVS9-56G > A and IVS13+1G > T). Three patients, natives from La Reunion Island, a French department located in the Indian Ocean, were studied. Molecular analysis revealed in a female a homozygous missense mutation p.V300G and in one male, a compound heterozygous mutations: p.V300G inherited from the caucasian father and p.R58fs from the black mother. The p.R58fs mutation is important for two reasons: it is the first AKU mutation described in a black subject and second it has been described in four other countries (Finland, India, Slovakia and Turkey) sharing the same HGD haplotype, which suggests that it is an old mutation, that probably originated in Africa and spread throughout Eurasia during human migrations.

No References
No Citations
No Supplementary Data
No Article Media
No Metrics

Keywords: Alkaptonuria; Reunion Island; homogentisate 1,2-dioxygenase; homogentisic acid; ochronosis; ochronotic arthropathy

Document Type: Research Article

Publication date: 01 May 2009

More about this publication?
  • Current Rheumatology Reviews publishes frontier reviews on all the latest advances on rheumatology and its related areas e.g. pharmacology, pathogenesis, epidemiology, clinical care, and therapy. The journal's aim is to publish the highest quality review articles dedicated to clinical research in the field.

    The journal is essential reading for all researchers and clinicians in rheumatology.
  • Access Key
  • Free content
  • Partial Free content
  • New content
  • Open access content
  • Partial Open access content
  • Subscribed content
  • Partial Subscribed content
  • Free trial content
Cookie Policy
Cookie Policy
Ingenta Connect website makes use of cookies so as to keep track of data that you have filled in. I am Happy with this Find out more