Ann Clin Case Rep | Volume 8, Issue 1 | Case Report | Open Access

Glutathione Synthetase Deficiency with Hypokalemia as the First Manifestation

Xing Y, Zhao W, Pi Y, Zhang Y, Li Y and Zhang H*

Department of Pediatrics, The Second Hospital of Hebei Medical University, China

*Correspondance to: Huifeng Zhang 

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In July 2022, a 10-year-old boy presented to a hospital pediatric department with intermittent limb weakness for 10 days, aggravated during the preceding 12 h. After treatment with potassium supplementation for “hypokalemia and hypernatremia,” he was discharged with a nominal blood potassium level. Three days later, he presented to our emergency department with numbness in both lower limbs, generalized weakness, presence of severe hypokalemia, and metabolic acidosis. A blood and urine metabolic screen reported elevated 5-oxoproline. High-throughput genetic sequencing revealed the presence of the c.491G>A (p.R164Q) and c.809A>G (p.Y270C) missense mutations in exons 5 and 9 respectively of the glutathione synthetase gene. A diagnosis of glutathione synthetase deficiency was made, and the boy was treated symptomatically and followed for more than three months. The acidosis was difficult to correct, but the hypokalemia did not recur. Glutathione synthetase deficiency is rare in clinical practice, and severe hypokalemia from damage to the renal tubules caused by organic acid accumulation as the presenting symptom - such as in the case described here - has not previously been reported either nationally or internationally.


Xing Y, Zhao W, Pi Y, Zhang Y, Li Y, Zhang H. Glutathione Synthetase Deficiency with Hypokalemia as the First Manifestation. Ann Clin Case Rep. 2023; 8: 2400..

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