Haemolytic anaemia due to triose phosphate-isomerase deficiency (Q99650): Difference between revisions
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Revision as of 16:19, 16 August 2026
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.
| Language | Label | Description | Also known as |
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| default for all languages | ID_475025488 |
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| English | Haemolytic anaemia due to triose phosphate-isomerase deficiency |
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. |
