Haemolytic anaemia due to glutathione synthetase deficiency (Q92469): Difference between revisions
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A deficiência da glutationa sintetase é um erro inato do metabolismo da glutationa caracterizada por anemia hemolítica, associada à acidose metabólica e 5-oxoprolinúria nas formas moderadas, e com sintomas neurológicos progressivos com infecções bacterianas recorrentes na sua forma mais grave | |||
| description / en | description / en | ||
Glutathione synthetase deficiency is an inborn error of glutathione metabolism characterised by haemolytic anaemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. | |||
Revision as of 07:36, 16 August 2026
Glutathione synthetase deficiency is an inborn error of glutathione metabolism characterised by haemolytic anaemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.
| Language | Label | Description | Also known as |
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| default for all languages | ID_2135206332 |
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| English | Haemolytic anaemia due to glutathione synthetase deficiency |
Glutathione synthetase deficiency is an inborn error of glutathione metabolism characterised by haemolytic anaemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. |
