Document Detail

Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients.
MedLine Citation:
PMID:  9511979     Owner:  NLM     Status:  MEDLINE    
We report on the long-term clinical course of 4 boys with Menkes disease, treated from early infancy with parenteral copper-histidine, with follow-up over 10-20 years. Three of the 4 had male relatives with a severe clinical course compatible with classical Menkes disease. As a consequence of early treatment, our patients have normal or near-normal intellectual development, but have developed many of the more severe somatic abnormalities of the related disorder, occipital horn syndrome, including severe orthostatic hypotension in 2. In addition, 1 boy developed a previously unreported anomaly, namely, massive splenomegaly and hypersplenism as a consequence of a splenic artery aneurysm. Previously reported molecular studies in 2 of these patients had shown gene defects which would have predicted a truncated and probably nonfunctional gene product. Despite the favorable effects on the neurological symptoms, parenteral copper treatment for Menkes disease should still be regarded as experimental. The development of more effective treatments must await a more precise delineation of the role which the Menkes protein plays in intracellular copper trafficking.
J Christodoulou; D M Danks; B Sarkar; K E Baerlocher; R Casey; N Horn; Z Tümer; J T Clarke
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  76     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1998 Mar 
Date Detail:
Created Date:  1998-05-14     Completed Date:  1998-05-14     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  154-64     Citation Subset:  IM    
Division of Clinical Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
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MeSH Terms
Copper / therapeutic use*
Drug Therapy, Combination
Follow-Up Studies
Histidine / therapeutic use*
Menkes Kinky Hair Syndrome / drug therapy*,  radiography
Reg. No./Substance:
71-00-1/Histidine; 7440-50-8/Copper

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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