Triose Phosphate Isomerase (TPI) Deficiency Prognosis

Triose Phosphate Isomerase (TPI) deficiency is a rare inherited disorder in glycolysis, one of the principal pathways by which cells generate energy. Affected children who inherit a gene for TPI deficiency from both parents develop anaemia due to a breakdown of red blood cells (haemolysis) and suffer progressive impairment of brain function and muscle weakness. In most cases (only about 30 cases world-wide have ever been reported) the disease is fatal in early childhood, though recently 2 families have been recognised who have a less severe form of the disease in which the neurological complications are absent. The reasons for these differences remain unknown. Currently no successful therapy exists for TPI deficiency.

Without some form of treatment or cure becoming available within the next few years, James Stewardson and Jordan Stokes in the UK, Ashley Smith, Sarah Jane Gladhill and Marissa Buchanan in America, Edwin Bouchard in France, Maria Jesús Candela in Spain, Ebony Corscadden and Daniel Johnson in Australia will join the saddest of statistics regarding TPI Deficiency.

(Devastatingly, Jordan Stokes passed away on Saturday January 18th 1997 aged 2 years and 9 months, Sarah Jane Gladhill passed away aged 5 months on October 27th 1998 our wonderful son James Stewardson passed away aged 6 years and 5 months on November 12th 1999 and Ebony Corscadden passed away aged 1 year and 5 months on November 15th 2000.)