The former regional officer, of Childwall, Liverpool, suffers from
alkaptonuria, a rare degenerative arthritis of the joints affecting only 50 people in the world.
Until a few years ago Simon was one of only six people in the UK diagnosed with
alkaptonuria, commonly known as black bone disease.
Alkaptonuria is where a person does not have enough of an enzyme called Hgao and toxic black deposits of acid build up in the joint cartilage and skin,causing permanent damage.
The facility based at the Royal Liverpool Hospital will help patients with AKU (
Alkaptonuria) - an inherited condition which can lead to a range of conditions like severe osteoarthritis, heart problems and kidney infections.
Mr Laxon, an ex-Caludon Castle School pupil, was diagnosed with the condition
alkaptonuria when he was just a few weeks old.
Among the abnormal samples were the following: 14 with propionic acidemia; 11 with methylmalonic aciduria; 11 with cystinuria; 6 with
alkaptonuria; 4 with glutaric aciduria I; 3 each with pyruvate decarboxylase deficiency, ketosis, Hartnup disorder, cystinosis, neuroblastoma, phenylketonuria, ethanol toxicity, glycerol kinase deficiency, and hydroxymethylglutaryl-CoA-lyase deficiency; and 2 with carbamoylphosphate synthetase deficiency.
SCIENTISTS at the University of Liverpool have received pounds 500,000 to develop a treatment for the rare, genetic disease
Alkaptonuria.
LIVERPOOL charity the
Alkaptonuria Society is to benefit from a donation from betting firm Betonmarkets.com.
A novel therapeutic trial of homogentisic aciduria in a murine model of
alkaptonuria. J Hum Genet 1999;44:79-84.
The investigation of aromatic acids in phenylketonuria,
alkaptonuria and tyrosinosis using gas-liquid chromatography.
It is an honour to officially open the Robert Gregory National
Alkaptonuria Centre, on his behalf.
The former regional officer, from Childwall, Liverpool, suffers from
Alkaptonuria - a rare form of arthritis affecting only 50 people in the world.