13 April 2023: Articles
Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up
Rare disease
Satoshi Ekuni * , Kei Hirayama * , Miwako Nagasaka A* , Keita Osumi B , Hidehito Kondo B , Erina Nakahara C , Keiko Shimojima Yamamoto C , Hitoshi Kanno C , Yoshinori Katayama DDOI: 10.12659/AJCR.938396
Am J Case Rep 2023; 24:e938396
Figure 4. (A) Amino acid conservation among species in the GSS. The Glu144 and Gly269 residues was highly conservation of among species in GSS. (B) A scheme of the predicted binding sites in the human glutathione synthetase cDNA and missense variants. GSS is composed of 13 exons. The variants in this case are shown in red arrow. Fourteen pathogenic missense variants in GSS [7] are indicated in black. The Glu144 residue is in a magnesium binding site and ATP binding site. The p.G269S in this case is in the vicinity of the pathogenic variants. This figure was created from data provided in previous studies [7,18,19].