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Severe Rhabdomyolysis in Glucose-6-Phosphate Dehydrogenase Deficiency
Balraj Singh1, Parminder Kaur1, Kok Hoe Chan2
1Department of Hematology/Oncology, Saint Joseph University Medical Center, Paterson, New Jersey.
The American Journal of the Medical Sciences
|May 26, 2020
Summary
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency, a genetic disorder, can rarely cause rhabdomyolysis. This case highlights rhabdomyolysis as an unusual G6PD deficiency manifestation, even without significant hemolysis.
Area of Science:
- Genetics
- Hematology
- Neurology
Background:
- Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is an X-linked genetic disorder.
- It is primarily known for causing intravascular hemolysis upon exposure to oxidative stress.
Observation:
- This report details a 33-year-old male with G6PD deficiency.
- The patient experienced multiple episodes of severe rhabdomyolysis with myoglobinuria.
- Notably, these episodes occurred without significant concurrent hemolysis.
Findings:
- Rhabdomyolysis is an exceptionally rare clinical manifestation of G6PD deficiency.
- This case adds to the limited literature suggesting a potential link between G6PD deficiency and rhabdomyolysis.
- The precise pathophysiological mechanism connecting G6PD deficiency to rhabdomyolysis remains undetermined.
Implications:
- This case underscores the importance of considering G6PD deficiency in patients presenting with unexplained rhabdomyolysis.
- Further research is warranted to elucidate the underlying mechanisms linking G6PD deficiency to muscle breakdown.
- Understanding this association may lead to improved diagnostic and management strategies for affected individuals.
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