Catalog

Haemolytic anaemia due to glutathione synthetase deficiency

No MMS code

Link to WHO Definition

Haemolytic anaemia due to glutathione synthetase deficiency – http://id.who.int/icd/entity/2135206332

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.