Epileptic encephalopathyGene: GSS
Comment on'treatable' tag due to information from PMID:15990954 vitamins C and E to boost their antioxidant levels, and bicarbonate to correct metabolic acidosis.
Created: 20 Mar 2017, 11:09 a.m.
Inclusion of this as a green gene on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL.
Created: 20 Mar 2017, 11:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Glutathione synthetase deficiency 266130; Hemolytic anemia due to glutathione synthetase deficiency 231900
This gene has been classified as Green List (High Evidence).
GSS was added to Epileptic encephalopathypanel. Sources: Expert Review
GSS was created by sleigh