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

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Figure 2. Brain magnetic resonance imaging (MRI) at age 25 months. Brain MRI shows dilated ventricular and mild brain atrophy. This figure is an original image.

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

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