DOI 10.1016/j.semperi.2026.152309
Are both hemolysis and impaired myocyte integrity associated with glucose-6-phosphate dehydrogenase deficiency?
Аннотация
Glucose-6-phosphate dehydrogenase (G6PD) is a potent antioxidant enzyme. G6PD deficiency, predominant among males, is a neonatal "neurotoxic" risk, characterized by episodic hemolysis that is sometimes infection triggered. Clinical risk among heterozygous G6PD-deficient females is often under-recognized. Recent reports of rhabdomyolysis among G6PD-deficient individuals are reviewed here. In one case, a male athlete with G6PD deficiency (<10% activity) experienced multiple, acute episodes of rhabdomyolysis, painful muscle symptomatology, injury and hemolysis after strenuous exertion. Both his mother with G6PD-deficiency (<45% activity) and maternal grandmother have chronic histories of episodic or triggered fatigue-related disruptive symptoms. Other case reports of G6PD-deficient individuals with muscle injury and exertional symptoms (with or without hemolysis) showed unique laboratory findings of elevated creatine kinase, myoglobin, lactate dehydrogenase, creatinine, and aminotransferases levels and myoglobinuria. Disrupted myocyte energetics and loss of cellular integrity can be attributed to impaired downstream pentose phosphate pathway (PPP)-related oxidant stress protection, which is a key enzymatic consequence of G6PD-deficiency. These triggered stresses may explain the muscle fatigue and propensity to exertional injury. Correlation between stress-sensitive-impaired muscle injury among all G6PD-deficient individuals, including neonates, requires further clinical validation to ascertain oxidant-stress impact of impaired PPP-dependent cellular energetics of red blood, white blood, neural, and muscle cells.
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