Document Detail


Menkes' kinky hair syndrome: a genetic disease involving copper.
MedLine Citation:
PMID:  821788     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The kinky hair syndrome (KHS) is an X-linked defect of copper transport in man. An animal model is available in mutants at the X-linked mottled locus in mice. The defect does not involve the uptake of copper from the intestinal lumen but rather the transport of copper from intestinal cells. The reduced activity of several copper-dependent enzymes and the lower copper content of serum, liver, and probably brain account for the manifestations of the disorder which are evident at, or shortly after, birth. Intrauterine involvement is likely but prenatal diagnosis is not yet possible. Although the delivery of iron to the erythropoietic system, and its utilization, are impaired in nutritionally induced copper deficiency, as is neutrophil production, these processes appear normal in KHS. thus, adequate copper to carry them out is available in KHS. While there may be more than one transport system for copper (only one of which is affected in KHS) it is also possible that the hematopoietic tissue in KHS, like the intestinal cells, has abnormally high afficity for copper. The presence of multiple alleles at the KHS locus (and at other genetic loci) in man, which cause different degrees of reduction in copper transport, could account for variations in the susceptibility to copper deficiency observed in infant populations.
Authors:
N A Holtzman
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Federation proceedings     Volume:  35     ISSN:  0014-9446     ISO Abbreviation:  Fed. Proc.     Publication Date:  1976 Sep 
Date Detail:
Created Date:  1976-10-29     Completed Date:  1976-10-29     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0372771     Medline TA:  Fed Proc     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  2276-80     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Amine Oxidase (Copper-Containing) / metabolism
Animals
Carrier Proteins / metabolism
Ceruloplasmin / metabolism
Copper / deficiency*,  metabolism
Dopamine beta-Hydroxylase / metabolism
Hematopoietic Stem Cells / metabolism
Humans
Intestinal Mucosa / metabolism
Iron / metabolism
Linkage (Genetics)
Metal Metabolism, Inborn Errors / enzymology,  metabolism*
Mice
Myelin Sheath / metabolism
Placenta / metabolism
Sex Chromosomes
Syndrome
Chemical
Reg. No./Substance:
0/Carrier Proteins; 7439-89-6/Iron; 7440-50-8/Copper; EC 1.14.17.1/Dopamine beta-Hydroxylase; EC 1.16.3.1/Ceruloplasmin; EC 1.4.3.6/Amine Oxidase (Copper-Containing)

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


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