+ Site Statistics
References:
52,654,530
Abstracts:
29,560,856
PMIDs:
28,072,755
+ Search Articles
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ PDF Full Text
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Translate
+ Recently Requested

Menkes' disease: long-term treatment with copper and D-penicillamine



Menkes' disease: long-term treatment with copper and D-penicillamine



European Journal of Pediatrics 147(6): 621-625



Menkes' disease is a rare X-linked recessive inherited disorder of copper metabolism characterized by neurodegeneration, peculiar hair, and early death. The symptoms can be attributed to decreased activity of copper-dependent enzymes, but treatment with copper has so far failed to influence the course of the disease. We present the case of an 8.5-year-old boy, whom we treated alternately with intramuscular copper-histidine and oral D-penicillamine and who showed an extraordinary mild form of Menkes' disease. In contrast to his untreated maternal uncle, this patient had normal growth and intellectual development, but showed marked ataxia and slight speech difficulties. We suggest that parenteral copper-histidine supplemented by oral D-penicillamine may be of benefit to early-treated patients with Menkes' disease.

(PDF emailed within 1 workday: $29.90)

Accession: 040677239

Download citation: RISBibTeXText

PMID: 3181204


Related references

Liver copper determination in long-term treatment of Wilson's disease with D-penicillamine. Die Medizinische Welt 32(3): 109-110, 1981

The effect of long term treatment with penicillamine on the copper content in the liver in patients with Wilson's disease. Acta Hepato-Gastroenterologica 22(5): 292-296, 1975

Copper concentration of liver tissue under long-term copper-histidine therapy in a patient with Menkes disease. Journal of Inherited Metabolic Disease 29(4): 593-593, 2006

Menkes' Kinky hair syndrome: studies of copper metabolism and long term copper therapy. Pediatric Research 11(7): 823-826, 1977

Effect of long term oral zinc or penicillamine therapy on copper status in children with wilson's disease. Federation Proceedings 45(3): 355, 1986

Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease. Human Molecular Genetics 8(8): 1547-1555, 1999

A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase. Journal of Medical Genetics 40(4): 290-295, 2003

Early treatment of Menkes disease with parenteral Cooper-histidine: Long-term follow-up of four treated patients. American Journal of Medical Genetics 76(2): 154-164, 1998

Long-term treatment of Wilson's disease with D-penicillamine. Report on 20 cases. Deutsche Medizinische Wochenschrift 92(37): 1657-1662, 1967

Long term treatment of wilsons disease with d penicillamine metab human. Birth Defects Original Article Series 4(2): 130-133, 1968

Wilson's disease (experience of long-term treatment with penicillamine---con penicilamina. Revista Clinica Espanola 133(5): 451-454, 1974

Iatrogenic copper deficiency associated with long-term copper chelation for treatment of copper storage disease in a Bedlington Terrier. Journal of the American Veterinary Medical Association 218(10): 1593-7, 1580, 2001

Effects of long-term treatment in Wilson's disease with D-penicillamine and zinc sulphate. Journal of Neurology 243(3): 269-273, 1996

Copper ligands in human milk: a vehicle for copper supplementation in the treatment of Menkes disease. American Journal of Diseases of Children 134(8): 802-803, 1980

Formulation of copper-histidine for the treatment of Menkes disease, a genetic disorder of copper transport. Journal of Inorganic Biochemistry 51(1-2): 415-0, 1993