Haemolytic anaemia due to triose phosphate-isomerase deficiency (Q99650): Difference between revisions
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A deficiência de triose-fosfato isomerase é um erro inato do metabolismo grave multisistêmico, caracterizado por anemia hemolítica crônica de início precoce, e comprometimento neurológico progressivo que se inicia entre 6 e 30 meses de vida. Outros sinais clínicos podem ser observados, em particular uma paralisia diafragmática que requer ventilação assistida, cardiomiopatia e uma maior susceptibilidade a infecções. | |||
| description / en | description / en | ||
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. | |||
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 |
|---|---|---|---|
| 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. |
