Glutathione synthetase deficiency
Caused by mutations of the glutathione synthetase gene at 20q11.2 this autonomic recessive condition sometimes only is manifest as haemolytic anaemia due to only the erythrocyte form of the enzyme being affected significantly. It can also manifest every intermediate stage to death within hours of birth. Experimental animal models suggest that complete gene knock out is not compatible with independent life.
The more severe mutations result in diversion of metabolic pathways to produce 5-oxoproline, which is then excreted in the urine and the patient also develops a metabolic acidosis, haemolytic anaemia, recurrent infections and central nervous system damage typically manifest as:
- Psychomotor retardation
- Cognitive impairment
- Spastic tetraparesis
- Retinal pigmentation
Possibly vitamins C and E might help.