Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up

Satoshi Ekuni; Kei Hirayama; Miwako Nagasaka; Keita Osumi; Hidehito Kondo; Erina Nakahara; Keiko Shimojima Yamamoto; Hitoshi Kanno; Yoshinori Katayama

doi:10.12659/AJCR.938396

13 April 2023 : Case report Japan

Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up

Rare disease

Satoshi Ekuni^1ABCDEF, Kei Hirayama^2ABCDEF, Miwako Nagasaka^1ADEF*, Keita Osumi

^1BCDEF, Hidehito Kondo^2BCDEF, Erina Nakahara

^34CDE, Keiko Shimojima Yamamoto

^3CDE, Hitoshi Kanno

^3CDEFG, Yoshinori Katayama^1DEF

DOI: 10.12659/AJCR.938396

Am J Case Rep 2023; 24:e938396

Authors information Article notes Copyright and License information

Background Case Report Discussion Conclusions References:

Related articles Order reprints Share article Share by email

View HTML version

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.

Back to the Article

Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up

Your Privacy