Severe rhabdomyolysis as a likely isolated presentation of glucose-6-phosphate dehydrogenase (G6PD) deficiency

An otherwise healthy young adult male with known glucose-6-phosphate dehydrogenase (G6PD) deficiency presented with severe rhabdomyolysis following routine exercise in the absence of haemolytic anaemia. While G6PD deficiency classically presents with oxidative stress-induced haemolysis, usually reported in the context of infection, medications or toxins, rhabdomyolysis is a rare and atypical manifestation. In this case, no clear precipitating factor for rhabdomyolysis was identified, and the patient did not develop haemolysis. Work up ruled out typical causes of acquired rhabdomyolysis. This presentation highlights the potential for G6PD deficiency to contribute to muscle injury even in the absence of haemolysis and suggests that G6PD deficiency should be considered in the differential diagnosis of atraumatic rhabdomyolysis of unclear aetiology. The patient was treated with intravenous fluids and close monitoring, showed clinical improvement and was discharged in stable condition.

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Publication Details

Journal
BMJ Case Reports
Published
2026-01-01
DOI
https://doi.org/10.1136/bcr-2025-268644
Primary Topic
Neonatal Health and Biochemistry
Type
article
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article

Severe rhabdomyolysis as a likely isolated presentation of glucose-6-phosphate dehydrogenase (G6PD) deficiency

Nisar Asmi, Rimma Osipov, Cynthia Y. Tang
BMJ Case Reports
Neonatal Health and Biochemistry
article

Severe rhabdomyolysis as a likely isolated presentation of glucose-6-phosphate dehydrogenase (G6PD) deficiency

Nisar Asmi, Rimma Osipov, Cynthia Y. Tang
article en

Abstract

An otherwise healthy young adult male with known glucose-6-phosphate dehydrogenase (G6PD) deficiency presented with severe rhabdomyolysis following routine exercise in the absence of haemolytic anaemia. While G6PD deficiency classically presents with oxidative stress-induced haemolysis, usually reported in the context of infection, medications or toxins, rhabdomyolysis is a rare and atypical manifestation. In this case, no clear precipitating factor for rhabdomyolysis was identified, and the patient did not develop haemolysis. Work up ruled out typical causes of acquired rhabdomyolysis. This presentation highlights the potential for G6PD deficiency to contribute to muscle injury even in the absence of haemolysis and suggests that G6PD deficiency should be considered in the differential diagnosis of atraumatic rhabdomyolysis of unclear aetiology. The patient was treated with intravenous fluids and close monitoring, showed clinical improvement and was discharged in stable condition.

BMJ Case ReportsVol. 19(1)
University of North Carolina at Chapel Hill (US), University of North Carolina Hospitals (US)
Good health and well-being
Openalex Percentile: Top 95%
Neonatal Health and Biochemistry
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