Haemolytic anaemia due to triose phosphate-isomerase deficiency (Q99650)

Triose-phosphate isomerase deficiency is a severe multisystem inborn error of metabolism characterised by early-onset chronic haemolytic anaemia, always present, and progressive neurological involvement that starts between 6 and 30 months of age. Other clinical signs can be observed, in particular, diaphragm paralysis that requires assisted ventilation, cardiomyopathy and an increased susceptibility to infections.