Biomaterial Database

Copper-histidine therapy for Menkes disease. 1993

B Sarkar, and K Lingertat-Walsh, and J T Clarke

Department of Biochemistry, Hospital for Sick Children, Toronto, Ontario, Canada.

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.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007706	Menkes Kinky Hair Syndrome	An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)	Hypocupremia, Congenital,Kinky Hair Syndrome,Menkes Syndrome,Steely Hair Syndrome,Congenital Hypocupremia,Copper Transport Disease,Kinky Hair Disease,Menkea Syndrome,Menkes Disease,Menkes' Disease,Steely Hair Disease,X-Linked Copper Deficiency,Congenital Hypocupremias,Copper Deficiencies, X-Linked,Copper Deficiency, X-Linked,Copper Transport Diseases,Deficiencies, X-Linked Copper,Deficiency, X-Linked Copper,Disease, Copper Transport,Disease, Steely Hair,Diseases, Copper Transport,Diseases, Kinky Hair,Diseases, Menkes',Diseases, Steely Hair,Hair Diseases, Kinky,Hair Diseases, Steely,Hypocupremias, Congenital,Kinky Hair Diseases,Menkea Syndromes,Menkes' Diseases,Steely Hair Diseases,Steely Hair Syndromes,Syndrome, Menkea,Syndrome, Steely Hair,Syndromes, Menkea,Syndromes, Steely Hair,Transport Disease, Copper,Transport Diseases, Copper,X Linked Copper Deficiency,X-Linked Copper Deficiencies
D008297	Male		Males
D002570	Ceruloplasmin	A multi-copper blood FERROXIDASE involved in iron and copper homeostasis and inflammation.	Caeruloplasmin,Ferroxidase,Ceruloplasmin Ferroxidase,Ceruloplasmin Oxidase,Ferroxidase I,alpha(2)-Ceruloplasmin,Ferroxidase, Ceruloplasmin,Oxidase, Ceruloplasmin
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D003300	Copper	A heavy metal trace element with the atomic symbol Cu, atomic number 29, and atomic weight 63.55.	Copper-63,Copper 63
D004359	Drug Therapy, Combination	Therapy with two or more separate preparations given for a combined effect.	Combination Chemotherapy,Polychemotherapy,Chemotherapy, Combination,Combination Drug Therapy,Drug Polytherapy,Therapy, Combination Drug,Chemotherapies, Combination,Combination Chemotherapies,Combination Drug Therapies,Drug Polytherapies,Drug Therapies, Combination,Polychemotherapies,Polytherapies, Drug,Polytherapy, Drug,Therapies, Combination Drug
D006639	Histidine	An essential amino acid that is required for the production of HISTAMINE.	Histidine, L-isomer,L-Histidine,Histidine, L isomer,L-isomer Histidine
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293	Adolescent	A person 13 to 18 years of age.	Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths

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