Síntesis y uso de histidinato de cobre en niños con enfermedad de Menkes en México.

Autor:	Flores-Pulido AA; Secretaría de Salud, Centro Regional de Alta Especialidad de Chiapas, Hospital de Especialidades Pediátricas, Chiapas, México., Jiménez-Pérez VM; Universidad Autónoma de Nuevo León, Facultad de Ciencias Químicas, Departamento de Materiales, Nuevo León, México., García-Chong NR; Secretaría de Salud, Centro Regional de Alta Especialidad de Chiapas, Hospital de Especialidades Pediátricas, Chiapas, México.
Jazyk:	angličtina
Zdroj:	Gaceta medica de Mexico [Gac Med Mex] 2019; Vol. 155 (2), pp. 191-195.
DOI:	10.24875/GMM.18004310
Abstrakt:	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. (Copyright: © 2019 SecretarÍa de Salud.)
Databáze:	MEDLINE
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