Generalized vascular tortuosity caused by deficiency of the copper enzyme lysyl oxidase is frequently noted in Menkes disease, but reported examples of peripheral aneurysms are rare. We describe bilateral brachial artery aneurysms in a 10-month-old infant with classical Menkes disease.
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Copper homeostasis and pregnancy complications: a comprehensive review.
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Copper, one of the most prolific transition metals in the body, is required for normal brain physiological activity and allows various functions to work normally through its range of concentrations. Copper homeostasis is meticulously maintained through a complex network of copper-dependent proteins, including copper transporters (CTR1 and CTR2), the two copper ion transporters the Cu -transporting ATPase 1 (ATP7A) and Cu-transporting beta (ATP7B), and the three copper chaperones ATOX1, CCS, and COX17. Disruptions in copper homeostasis can lead to either the deficiency or accumulation of copper in brain tissue.
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Article Synopsis
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