Menke's disease

Menke's disease: Overview

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.

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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 and 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 and 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.

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Menke's Disease:

Menke's disease can lead to:


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