title: Copper-histidine therapy for Menkes disease.
abstract: Menkes disease is an X-linked genetic disorder of copper transport that results in death from severe progressive neurodegeneration by the age of 3 years. We report here our 17 years' experience with the treatment of Menkes disease with subcutaneous administration of copper-histidine. Two patients (16 and 6 years of age) whose therapy was begun within 1 month of birth have done well neurologically. The other five patients have done poorly despite treatment initiated at 2 to 7 months of age. Copper-histidine therapy may be an effective treatment if started early.
authors.affiliation: Department of Biochemistry, Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: B
authors.initials: B
authors.lastname: Sarkar
authors.forename: K
authors.initials: K
authors.lastname: Lingertat-Walsh
authors.forename: J T
authors.initials: JT
authors.lastname: Clarke
mesh_terms: D000293:Adolescent; D002570:Ceruloplasmin / Q000032:analysis; D002648:Child; D003300:Copper / Q000097:blood / Q000627:therapeutic use*; D004359:Drug Therapy, Combination; D006639:Histidine / Q000627:therapeutic use*; D006801:Humans; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000097:blood / Q000188:drug therapy*; D012189:Retrospective Studies
chemical_list: D006639:Histidine; D003300:Copper; D002570:Ceruloplasmin