13 April 2023
: Case report 
Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up
Rare disease
Satoshi Ekuni1ABCDEF, Kei Hirayama2ABCDEF, Miwako Nagasaka1ADEF*, Keita Osumi
1BCDEF, Hidehito Kondo2BCDEF, Erina Nakahara 34CDE, Keiko Shimojima Yamamoto 3CDE, Hitoshi Kanno 3CDEFG, Yoshinori Katayama1DEF
DOI: 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].