Fibroblast silver loading for the diagnosis of Menkes disease

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Abstract

Menkes disease is a genetic disorder of copper metabolism.Copper uptake and retention assays on fibroblast or amniotic fluid cell cultures have been used for pre- and postnatal diagnosis. These copper loading tests are complicated by the use of64 Cu, which is not commonly available and has a very short (12.8 hours) physical half life. Besides copper, silver is also a substrate for the bacterial homologue of the Menkes transport protein. We report here that loading tests using radioactive silver (110m) Ag), instead of copper, can be used for the diagnosis of Menkes disease.110m Ag is commercially available and has a convenient physical half life of 250 days, which makes it suitable for use in diagnostic laboratories. Our studies support the hypothesis that reduction of divalent to monovalent copper is an essential step preceding transport.

(J Med Genet 1998;35:849-851)

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