Intravenous Copper in Menkes' Kinky-Hair Syndrome

Sibling cases of a degenerative neurological disease associated with hypocupraemia and hypobetalipoproteinaemia

“…Even in Menkes disease, a transient increase in serum copper level was observed after the parenteral administration of copper [4,8,17]. Several interpretations of our observations are possible.…”

Life‐span and Menkes kinky hair syndrome: report of a 13‐year course of this disease

“…They established decreased serum copper and caeruloplasmin levels and a low copper content predominantly in the liver (Alexander 1974, Danks et al 1972, Gordon 1974, Horn 1984. Copper absorption was found to be reduced, so at first a copper deficiency was suspected and therapy seemed possible (Danks et al 1972, Gordon 1974, Grover & Scrutton 1975, Walker-Smith et al 1973, Wehinger et al 1975. Later, copper accumulation was detected in the duodenal mucosa (Danks 1983, Danks & Camakaris 1983, Horn 1984, Lucky & Hsia 1979.…”

“…Substitution by oral administration was achieved only with extremely high doses (Danks et al 1972, Danks 1983, Horn 1984, Lott et al 1975; better absorption was obtained with Cu-nitriloacetate (Danks 1983). Normal serum copper levels and liver values were attained, but only slight clinical improvement was registered (Danks 1983, Danks & Camakaris 1983, Horn 1984, Lott et al 1975, Wehinger et al 1975.…”

“…We would therefore like to report a patient who lived to be 13.5 years old. A short publication dealing with initial findings and therapy in this patient has appeared earlier (Wehinger et al 1975). ., born 19.…”

Menkes Kinky Hair Syndrome: Is it a treatable disorder?

“…There remain, however, many unanswered questions concerning the nature of Menkes Syndrome, among which is the explanation for the failure of parenteral copper therapy to bring about either clinical improvement or an increase in certain copper metalloenzymes. Several patients have been reported (Walker-Smith 1973, Wehringer et al 1975, Lott 1975a, Grover & Scrutton 1975 in serum copper concentrations were et al e t al. whom maintained at more than 100 mg/100 ml for periods longer than 1 month, with no improvement in the clinical status.…”