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 3. γ-Glutamyl cycle. Glutathione (GSH) is synthesized from glutamine and cysteine by γ-glutamylcysteine synthetase (GS) and glutathione synthetase (GSS) during the γ-glutamyl cycle. In patients with glutathione synthetase deficiency (GSD), the reduction in GS activity leads to the intracellular accumulation of γ-glutamylcysteine, which is converted to 5-oxoproline (OXP) and cysteine, with the resultant increase in 5-OXP concentration in blood and urine. This figure was created by Satoshi Ekuni, based on data from Ristoff E, Larsson A. Inborn errors in the metabolism of glutathione. Orphanet J Rare Dis 2007; 2: 16.