Preferred Label : Haemolytic anaemia due to glutathione reductase deficiency;
ICD-11 definition : 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.;
Origin ID : 286285535;
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- Currated CISMeF NLP mapping
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.
