Haemolytic anaemia due to glutathione reductase deficiency (Q93776): Difference between revisions
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A anemia hemolítica devido a deficiência de glutationa redutase (GSR) é caracterizada por ausência quase completa da atividade da GSR nos eritrócitos. Esta doença foi descrita em três crianças (um homem e duas mulheres) nascidas de pais consanguíneos. Ambos os pais tinham nível intermediário de atividade da GRS. Uma criança apresentou favismo e duas com catarata. A transmissão é autossômica recessiva. Esta doença deve ser diferenciada da deficiência da glutationa redutase secundária a deficiência dietética de riboflavina e do fenótipo farmacológico agudo induzido pela carmustina (BCNU). A atividade da GSR não é restaurada pela riboflavina in vivo ou por FAD in vitro | |||
| description / en | description / en | ||
Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes. It has been described in three children (one male and two females) born to consanguineous parents. Both parents had intermediate levels of GSR activity. One child presented with favism and two with cataracts. Transmission is autosomal recessive. This disease should be distinguished from glutathione reductase deficiency secondary to dietary riboflavin deficiency and from the acute pharmacologic phenocopy induced by carmustine (BCNU). GSR activity is not restored by riboflavin in vivo or by FAD in vitro. | |||
Revision as of 08:52, 16 August 2026
Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes. It has been described in three children (one male and two females) born to consanguineous parents. Both parents had intermediate levels of GSR activity. One child presented with favism and two with cataracts. Transmission is autosomal recessive. This disease should be distinguished from glutathione reductase deficiency secondary to dietary riboflavin deficiency and from the acute pharmacologic phenocopy induced by carmustine (BCNU). GSR activity is not restored by riboflavin in vivo or by FAD in vitro.
| Language | Label | Description | Also known as |
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| default for all languages | ID_286285535 |
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| English | Haemolytic anaemia due to glutathione reductase deficiency |
Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes. It has been described in three children (one male and two females) born to consanguineous parents. Both parents had intermediate levels of GSR activity. One child presented with favism and two with cataracts. Transmission is autosomal recessive. This disease should be distinguished from glutathione reductase deficiency secondary to dietary riboflavin deficiency and from the acute pharmacologic phenocopy induced by carmustine (BCNU). GSR activity is not restored by riboflavin in vivo or by FAD in vitro. |
