title: Clinical and biochemical consequences of copper-histidine therapy in Menkes disease.
abstract: Menkes disease (MD) is an X-linked recessively inherited neurodegenerative disorder of copper (Cu) metabolism leading to death in early childhood. Symptoms are attributed to deficient activity of Cu-dependent enzymes. Limited experience has been reported concerning clinical and biochemical consequences of parenteral treatment with copper-(histidine)2-complex (Cu-His) in MD. Cu-His was administered in a 13-week-old boy with MD by daily intramuscular injections. After 6 weeks of therapy, Cu and caeruloplasmin in serum and Cu in CSF were normalized. The excessive 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 were observed. Developmental regression stopped and was replaced by a slight progression. Death at the age of 19 months was caused by septicaemia due to a fulminant urinary tract infection; there was no evidence of chronic Cu toxicity. These findings suggest that Cu-His supplementation may be a promising palliative treatment in MD.
authors.affiliation: Children's Hospital, Justus Liebig University, Giessen, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Kreuder
authors.forename: A
authors.initials: A
authors.lastname: Otten
authors.forename: H
authors.initials: H
authors.lastname: Fuder
authors.forename: Z
authors.initials: Z
authors.lastname: Tümer
authors.forename: T
authors.initials: T
authors.lastname: Tønnesen
authors.forename: N
authors.initials: N
authors.lastname: Horn
authors.forename: D
authors.initials: D
authors.lastname: Dralle
mesh_terms: D001842:Bone and Bones / Q000000981:diagnostic imaging; D002395:Catecholamines / Q000378:metabolism; D002570:Ceruloplasmin / Q000378:metabolism; D003300:Copper / Q000008:administration & dosage* / Q000009:adverse effects / Q000378:metabolism; D004338:Drug Combinations; D005260:Female; D006639:Histidine / Q000008:administration & dosage* / Q000009:adverse effects; D006801:Humans; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000000981:diagnostic imaging / Q000188:drug therapy* / Q000378:metabolism; D011859:Radiography
chemical_list: D002395:Catecholamines; D004338:Drug Combinations; D006639:Histidine; D003300:Copper; D002570:Ceruloplasmin