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Licensed Unlicensed Requires Authentication Published by De Gruyter December 15, 2015

Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency

  • Mehmet Gündüz , Özlem Ünal EMAIL logo , Sumru Kavurt , Emrecan Türk and Neslihan Önenli Mungan


Background: Glutathione synthetase (GS) deficiency is a rare inborn error of glutathione (GSH) metabolism manifested by severe metabolic acidosis, hemolytic anemia, neurological problems and massive excretion of pyroglutamic acid (5-oxoproline) in the urine. The disorder has mild, moderate, and severe clinical variants. We aimed to report clinical and laboratory findings of four patients, effect of sodium hydrogen carbonate treatment and long-term follow up of three patients.

Methods: Urine organic acid analysis was performed with gas chromatography-mass spectrometry. Molecular genetic analysis was performed in three patients, mutation was found in two of them. Enzyme analysis was performed in one patient. Clinical and laboratory findings of four patients were evaluated.

Results: One patient died at 4 months old, one patient’s growth and development are normal, two patients have developed intellectual disability and seizures in the long term follow up period. Three patients benefited from sodium hydrogen carbonate treatment.

Conclusions: The clinical picture varies from patient to patient, so it is difficult to predict the prognosis and the effectiveness of treatment protocols. We reported long term follow up of four patients and demonstrated that sodium hydrogen carbonate is effective for treatment of chronic metabolic acidosis in GS deficieny.

Corresponding author: Özlem Ünal, MD, Ankara Children’s Hematology Oncology Training and Research Hospital, İrfan Baştuğ Cad. Kurtdereli Sok. 06130 Altındağ, Ankara, Turkey, Phone: +90 542 251 8800, Fax: +90 312 347 2330


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Received: 2015-8-1
Accepted: 2015-10-1
Published Online: 2015-12-15
Published in Print: 2016-4-1

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