Menke’s disease

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.

Inherited copper deficiency (Menkes’ syndrome) occurs in male infants who have inherited a mutant X-linked gene, with an incidence of about 1 in 50,000 live births. 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. No clearly effective therapy is known.

 


Conditions that suggest Menke's disease

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Menke's disease can lead to

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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.

Protein

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.

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