Wednesday, June 18, 2008

Alkapatonuria Society

A new charity has been established to promote awareness of the rare genetic condition alkaptonuria. The Society has a advice centre based at the Royal Liverpool University Hospital to support both patients and the medical profession.

The condition is cause by the under production of the enzyme homogentisic acid oxidase which displays as ochronosis, a blue-black discoloration of connective tissue including bone, cartilage, and skin caused by deposits of ochre-colored pigment. Further information and research papers are available on the Alkapatonuria Society website.

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