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Menke's disease
  Menke's disease
 Conditions that suggest it
 It can lead to...
 


Alternative Names: Inherited copper deficiency or Menkes' syndrome.

Menke's disease is a rare problem of copper malabsorption in male infants. In this condition, which can often be fatal, decreased intestinal absorption causes copper to accumulate in the intestinal lining.
Incidence


Menke's disease occurs in male infants who have inherited a mutant X-linked gene, with an incidence of about 1 in 50,000 live births.

Signs & Symptoms
Clinically, the disorder is characterized by severe mental retardation, sparse, steely or kinky hair and a number of other abnormalities, some of which can be correlated with deficiencies of specific copper proteins.

Treatment & Prevention
No clearly effective therapy is known.

The significance of reports that copper histidinate has prolonged life in affected infants is unclear because of phenotypic and genotypic heterogeneity.





Conditions that suggest Menke's disease:
Nutrients  Copper Deficiency

Menke's disease can lead to:
Nutrients  Copper Deficiency


KEY
Weak or unproven link
Proven definite or direct link


GLOSSARY

Copper
An essential mineral that is a component of several important enzymes in the body and is essential to good health. Copper is found in all body tissues. Copper deficiency leads to a variety of abnormalities, including anemia, skeletal defects, degeneration of the nervous system, reproductive failure, pronounced cardiovascular lesions, elevated blood cholesterol, impaired immunity and defects in the pigmentation and structure of hair. Copper is involved in iron incorporation into hemoglobin. It is also involved with vitamin C in the formation of collagen and the proper functioning in central nervous system. More than a dozen enzymes have been found to contain copper. The best studied are superoxide dismutase (SOD), cytochrome C oxidase, catalase, dopamine hydroxylase, uricase, tryptophan dioxygenase, lecithinase and other monoamine and diamine oxidases.

Malabsorption
Improper utilization of needed and available nutrients, either from impaired digestive function (such as B12 being unabsorbed because of gastritis), impaired absorption (poor Vitamin E absorption because of an inflamed ileum) or impaired transport (the diminished blood proteins of the advanced alcoholic). There are other causes as well.

Protein (Proteins)
Compounds composed of hydrogen, oxygen, and nitrogen present in the body and in foods that form complex combinations of amino acids. Protein is essential for life and is used for growth and repair. Foods that supply the body with protein include animal products, grains, legumes, and vegetables. Proteins from animal sources contain the essential amino acids. Proteins are changed to amino acids in the body.




Last updated: Apr 13, 2008


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