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This case reports hemoperitoneum due to volvulus in a man with Menkes disease, indicating gastrointestinal risks linked to copper deficiency.
Menkes disease is an X-linked recessive disorder of copper metabolism resulting in impaired activity of lysyl oxidase, a cuproenzyme essential for collagen and elastin cross-linking. The resulting connective tissue fragility underlies many phenotypic features of the disease. We report the case of a 23-year-old man with Menkes disease who developed massive hemoperitoneum secondary to transverse colon volvulus around an intra-abdominal adhesion band. We hypothesize that copper-dependent connective tissue abnormalities predisposed this patient to adhesion formation. This case highlights a potential mechanistic link between copper transport deficiency, abnormal peritoneal healing, and life-threatening gastrointestinal complications.
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Lemu et al. (2026) studied this question.
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