Seminars in perinatology
October 17, 2026 · via Europe PMC
Are both hemolysis and impaired myocyte integrity associated with glucose-6-phosphate dehydrogenase deficiency?
Bhutani VK, Lane S.
AI summary — for doctors, generated from the abstract only
A review suggests G6PD deficiency may be linked not only to hemolysis but also to exertional muscle injury and rhabdomyolysis, though this needs clinical validation.
What was studied
Narrative review of recent case reports of rhabdomyolysis in G6PD-deficient individuals, including a male athlete with <10% enzyme activity and his mother (<45% activity), with discussion of pentose phosphate pathway biology.
Key findings
- Reported cases showed elevated creatine kinase, myoglobin, lactate dehydrogenase, creatinine and aminotransferases and myoglobinuria
- The athlete had multiple acute episodes of rhabdomyolysis and hemolysis after strenuous exertion
- The proposed mechanism is impaired pentose phosphate pathway oxidant-stress protection disrupting myocyte energetics
Clinical relevance
Clinicians may consider G6PD deficiency in patients, including heterozygous females, with unexplained recurrent exertional muscle injury, and be aware of risk beyond hemolysis.
Who should care
Limitations
Based on a few case reports without systematic search or controlled data; the authors state the link requires further clinical validation.
The hemolysis-and-muscle-injury link is plausible but unproven and rests on case-level evidence.
This is an AI-generated summary of the published abstract, not a clinical recommendation. It may not reflect the full text or subsequent updates — verify against the original source before acting on it.
Abstract
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.
DOI
10.1016/j.semperi.2026.152309
PMID
42892600
Research metadata (titles, abstracts, authors, publication dates) is sourced from Europe PMC, which aggregates content from PubMed/MEDLINE, PubMed Central, and other providers under the U.S. National Library of Medicine (NLM/NCBI). NLM does not claim copyright on abstracts; the original journal publishers or authors may hold rights to the full articles. AI-generated summaries are derived only from the abstract, never the full text, and are always labeled as AI-generated.
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