Resumo

FLORES-PULIDO, Andrey Arturo; JIMENEZ-PEREZ, Víctor Manuel  e  GARCIA-CHONG, Néstor Rodolfo. Síntesis y uso de histidinato de cobre en niños con enfermedad de Menkes en México. Gac. Méd. Méx [online]. 2019, vol.155, n.2, pp.191-195.  Epub 01-Jul-2021. ISSN 2696-1288.  https://doi.org/10.24875/gmm.18004310.

Menkes disease is a neurodegenerative and lethal pathology caused by gene mutations of the copper-transporting ATP-7A enzyme; it manifests itself by neurological symptoms and connective tissue changes of varying severity. Timely subcutaneous use of copper histidinate (Cu-His) is determinant for quality of life. We report the first experiences in Mexico on Cu-His synthesis and its safe use in 3 cases where hypocupremia and hypoceruloplasminemia were corroborated. With advice of the Hospital for Sick Children of Toronto Canada, we prepared a 500 µg/mL solution. In all three cases were 250 µg of Cu-His applied without relevant undesirable effects for 30 days. Serum copper (Cu, expressed in µg/L) and ceruloplasmin (Cp, in mg/dL) were determined: case 1, Cu days 0 and 30, 8 and 504 µg/L; Cp days 0 and 30, 4 and 10.75 mg/dL; case 2, Cu days 0 and 30, <50 and 502 µg/L; Cp days 0 and 30, 2 and 15 mg/dL; case 3, Cu days 0 and 30, 3 and 84.2 µg/L; Cp days 0 and 30, 4 and 10.7 mg/dL. In Mexico, it is possible to safely synthesize Cu-His and treat MD, which must be intentionally sought.

Palavras-chave : Menkes; Histidinate; Copper; Children.

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