Copper histidinate is used as a copper supplement because it occurs naturally in the blood (1). It was introduced in 1976 in Toronto, Canada, but unfortunately it has not made good on its initial promise as a cure to Menkes disease. Copper-histidinate does not pass through the blood-brain-barrier or cell membranes as a complex, but instead delivers copper to the cell surface. Copper compounds that easily pass into the brain and into individual cells are needed. A number of drugs with good penetrance and good copper binding qualities are increasingly being used in diagnostic work and are beginning to be recognized for treatment benefits in cancer and now also for treatment of Menkes syndrome.
New drugs are entering clinical trials for Menkes treatment. Strict criteria are used to enroll patients and good clinical evaluation is paired with thorough molecular diagnostics. Early diagnosis is critical and new clinical scoring systems are in progress to detect the syndrome early. In the near future it may be possible to test a gene panel including the Menkes gene, ATP7A, if a baby boy shows unspecific signs of an inborn error of metabolism (IEM). Newborn molecular screening of ATP7A is also under investigation (2).
References:
Sarkar B, Kruck T (1966). Copper-amino acid complexes in human serum, in: J. Peisach, P. Aisen, W. Blumberg (Eds.), Biochemistry of Copper, Academic Press, New York. 183–196.