Logo American Journal of Case Reports

Call: 1.631.629.4328
Mon-Fri 10 am - 2 pm EST

Contact Us

Logo American Journal of Case Reports Logo American Journal of Case Reports Logo American Journal of Case Reports

13 March 2023 : Case report  Japan

[In Press] 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 ORCID logo1BCDEF, Hidehito Kondo2BCDEF, Erina Nakahara ORCID logo34CDE, Keiko Shimojima Yamamoto ORCID logo3CDE, Hitoshi Kanno ORCID logo3CDEFG, Yoshinori Katayama1DEF

DOI: 10.12659/AJCR.938396

Am J Case Rep In Press; DOI: 10.12659/AJCR.938396  

Available online: 2023-03-13, In Press, Corrected Proof

Publication in the "In-Press" formula aims at speeding up the public availability of the pending manuscript while waiting for the final publication. The assigned DOI number is active and citable. The availability of the article in the Medline, PubMed and PMC databases as well as Web of Science will be obtained after the final publication according to the journal schedule


Glutathione synthetase deficiency (GSD) is a rare autosomal recessive disorder caused by glutathione synthetase (GSS) gene variants that occur in 1 in 1 million individuals. The severe form of GSD is characterized by hemolytic anemia, metabolic acidosis with 5-oxoprolinuria, progressive neurological symptoms, and recurrent bacterial infections. This case report presents a male Japanese infant with severe hemolytic anemia and metabolic acidosis at birth caused by GSD, who developed progressive neurological symptoms on follow-up.
A Japanese male term infant developed severe hemolytic anemia and metabolic acidosis in the early neonatal period. We suspected GSD based on his symptoms and a high 5-oxoproline urine concentration. We began correcting his metabolic acidosis and administering vitamins C and E supplements. The patient required blood transfusion twice during the acute phase for hemolytic anemia. After age 1 month, he maintained good control of metabolic acidosis and hemolytic anemia. A definitive diagnosis of GSD was made based on high concentrations of 5-oxoproline in urine, low concentrations of glutathione and GSS activity in erythrocytes, and genetic testing. Several episodes of febrile convulsions were started at age 11 months, but none occurred after 2 years. At the last follow-up at age 25 months, metabolic acidosis and hemolytic anemia were well controlled, but he had mild neurodevelopmental delay.
This case report shows that GSD can present with severe hemolytic anemia and metabolic acidosis at birth, and manifest with subsequent neurological impairment despite early diagnosis and treatment. Therefore, a careful long-term follow-up that includes neurological evaluation is essential for patients with GSD.

Keywords: Acidosis; Anemia, Hemolytic; Jaundice, Neonatal; Metabolic Diseases; Glutathione Synthetase Deficiency


22 February 2023 : Case report  Taiwan

A 30-Year-Old Woman with an 8-Week History of Anxiety, Depression, Insomnia, and Mild Cognitive Impairment ...

Am J Case Rep In Press; DOI: 10.12659/AJCR.938732  

22 February 2023 : Case report  Nigeria

Multidrug-Resistant Kocuria rosea and Methicillin-Resistant Staphylococcus aureus Co-Infection in a Nigeria...

Am J Case Rep In Press; DOI: 10.12659/AJCR.938761  

In Press

17 Mar 2023 : Case report  USA

Dermoid Cyst of the Parotid Gland: Case Report of a Rare Entity and Review of the Literature

Am J Case Rep In Press; DOI: 10.12659/AJCR.939411  

17 Mar 2023 : Case report  Japan

A Case of a Refractory Bleeding Giant Vaginal Wall Cavernous Hemangioma Successfully Managed with Sclerothe...

Am J Case Rep In Press; DOI: 10.12659/AJCR.939474  

16 Mar 2023 : Case report  Indonesia

Initial Thrombocyte Concentrate Transfusion in Woman with Chronic Immune Thrombocytopenia Purpura (ITP) Who...

Am J Case Rep In Press; DOI: 10.12659/AJCR.938752  

15 Mar 2023 : Case report  USA

Thoracic Epidural as a Rescue Analgesic in a Patient with a Continuous Erector Spinae Plane Block for Rib F...

Am J Case Rep In Press; DOI: 10.12659/AJCR.938875  

Most Viewed Current Articles

13 Jul 2022 : Case report  USA

Whistling Scrotum: An Unusual Presentation of Pneumomediastinum in the Setting of an Open Scrotal Wound

DOI :10.12659/AJCR.936441

Am J Case Rep 2022; 23:e936441

06 Dec 2021 : Case report  Brazil

Lipedema Can Be Treated Non-Surgically: A Report of 5 Cases

DOI :10.12659/AJCR.934406

Am J Case Rep 2021; 22:e934406

23 Feb 2022 : Case report  USA

Penile Necrosis Associated with Local Intravenous Injection of Cocaine

DOI :10.12659/AJCR.935250

Am J Case Rep 2022; 23:e935250

07 Dec 2021 : Case report  USA

Edwardsiella tarda: A Classic Presentation of a Rare Fatal Infection, with Possible New Background Risk Fac...

DOI :10.12659/AJCR.934347

Am J Case Rep 2021; 22:e934347

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923