Triosephosphate isomerase deficiency is a rare autosomal recessive[2] metabolic disorder which was initially described in 1965.

[3] 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.

Thirteen different mutations in the respective gene, which is located at chromosome 12p13 and encodes the ubiquitous housekeeping enzyme triosephosphate isomerase (TPI), have been discovered so far.

Recent work suggests that not a direct inactivation, but an alteration in TPI dimerization might underlie the pathology.

All carriers of the mutation are descendants of a common ancestor, a person that lived in what is today France or England more than 1000 years ago.