Preferred Label : Haemolytic anaemia due to triose phosphate-isomerase deficiency;
ICD-11 definition : Triose-phosphate isomerase deficiency is a severe multisystem inborn error of metabolism
characterized by early-onset chronic hemolytic anemia, 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.;
Origin ID : 475025488;
Validated automatic mappings to NTBT
Triose-phosphate isomerase deficiency is a severe multisystem inborn error of metabolism
characterized by early-onset chronic hemolytic anemia, 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.
