Glutathione Synthetase Deficiency
Pathogenesis (Leukodystrophy, Fatty Acid Disorder)
- Glutathione Synthetase deficiency results in failure of the gamma-glutamyl cycle, which results in glutathione deficiency, and leads to failure of neutralization of carcinogens/toxins.
Clinical
- Onset: Birth
- Systemic manifestations: Hemolytic Anemia, Urinary excretion of 5-oxoprolinuria, Metabolic Acidosis
- Neurological manifestations: Psychomotor retardation with cognitive delay and ataxia.
Genetics
- GSS gene
- Autosomal Recessive
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov