Triosephosphate isomerase deficiency

Triosephosphate isomerase deficiency is a rare autosomal recessive metabolic disorder which was initially described in 1965.

It is a unique glycolytic enzymopathy that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections, severe neurological dysfunction, and, in most cases, death in early childhood. The disease is exceptionally rare with fewer than 100 patients diagnosed worldwide.