The response to subcutaneous copper-histidine treatment (50 - 150 mcg Cu/kgm/daily) in seven children with Menkes disease (Kinky-Hair disease) is reported from the Hospital for Sick Children and University of Toronto, Canada. Two patients, ages 16 and 6 years, whose therapy began within 1 month of birth, did well neurologically but have skeletal deformities and muscle weakness. Both have normal IQs and no seizures. The other 5 patients whose treatment was initiated at 2 to 7 months of age failed to thrive and had progressive neurological deterioration. Treatment with copper-histidine is recommended and should be started before 1 month of age. [1]
COMMENT. In a 13-week-old boy with Menkes disease treated with copper-histidine by daily intramuscular injections, Cu and ceruloplasmin in serum and Cu in CSF became normal after 6 weeks, epileptic discharges and infantile spasms were reduced, muscle tone was improved, motor activities increased, and developmental regression stopped. A marked improvement in osseous changes at 6 months was also noted [2]. This report from Children’s Hospital, Justus Liebig University, Giessen, Germany, is the first to demonstrate normalization of dopamine and dopamine/norepinephrine ratio in CSF after copper-histidine therapy.
The recent reports from three independent laboratories of the isolation of a Menkes’ gene candidate have narrowed the search for the defective or missing factor in this sex-linked, recessive neurodegenerative disorder. A copper-transporting ATPase may be the important factor in normal copper metabolism. [3]