CLINICAL AND BIOCHEMICAL CONSEQUENCES OF COPPER-HISTIDINE THERAPY IN MENKES DISEASE

Menkes disease (MD) is an X-linked recessively inherited neurodegenera tive disorder of copper (Cu) metabolism leading to death in early chil dhood. Symptoms are attributed to deficient activity of Cu-dependent e nzymes. Limited experience has been reported concerning clinical and b iochemical consequences of parenteral treatment with copper-(histidine )2-complex (Cu-His) in MD. Cu-His was administered in a 13-week-old bo y with MD by daily intramuscular injections. After 6 weeks of therapy, Cu and caeruloplasmin in serum and Cu in CSF were normalized. The exc essive dopamine level in CSF was corrected after 3 months of treatment . After 6 weeks of Cu supplementation, complete reduction of epileptic discharges, improved muscular tone and increased motor activities wer e observed. Developmental regression stopped and was replaced by a sli ght progression. Death at the age of 19 months was caused by septicaem ia due to a fulminant urinary tract infection; there was no evidence o f chronic Cu toxicity. These findings suggest that Cu-His supplementat ion may be a promising palliative treatment in MD.