GSH plays an important role in biological functions, including synthesis of proteins and DNA and anti-oxidants detoxification. GS deficiency is an autosomal recessive genetic defect associated with chronic haemolytic anaemia, neurological disorder and metabolic acidosis
This is a genetic disease. It is linked to mutations of the GS gene, encoding the GS enzyme. These mutations lead to a decrease of GS activity. An individual can be heterozygous for the disorder (healthy carrier) when only one of the GS genes is mutated, or homozygous or compound heterozygote (affected individual) when the two GS genes are mutated.
This enzyme deficiency is characterized by chronic nonspherocytic haemolytic anaemia. In severe cases the hemolytic anemia is associated with urinary elimination of 5-oxoproline, metabolic acidosis, and central nervous system damage.
Supportive measures such as red cell transfusions in case of severe anaemia. In some cases spleen removal (splenectomy) may improve the anaemia and thereby patient’s clinical situation.