Sunday, September 6, 2020

History of Menkes disease

Menkes disease is an X-linked multisystemic lethal disorder of copper metabolism. Patients usually exhibit a severe clinical course, with death in early childhood, but variable forms exist and occipital horn syndrome (OHS) is the mildest form. Menkes syndrome patients fail to absorb copper from the gastrointestinal tract in quantities adequate for meeting nutritional needs.

It is characterized by progressive cerebral degeneration with psychomotor deterioration, seizures, and connective tissue alteration with hair abnormalities.

The history of Menkes disease (MD) dates back to as early as 1937 when Australian veterinary scientists recognized an association between copper deficiency and a demyelinating disease of the brain in the offspring of sheep grazing in copper-deficient pastures.

Researchers in the 1960s observing defective wool in affected sheep turned to the Australian Wool Research Laboratories to establish a link between a copper-deficient diet and defective hair formation. The disorder was first described by John Hans Menkes in 1962. He was an Austrian-American pediatric neurologist and author of fictional novels and plays. He identified two inherited diseases: maple syrup urine disease which is a defect in amino acid metabolism, and a defect in copper transport which bears his name.

Danks, a physician, identified Menkes syndrome as a human example of abnormal neurodevelopment due to copper deficiency. Danks’s discovery was based on his recognition that the unusual hair of infants with Menkes syndrome appeared similar in texture to the brittle wool of sheep raised on copper-deficient soil in Australia. He measured serum copper in seven Menkes syndrome patients and found low concentrations in all cases.

O’Brien and Sampson coined the term “kinky hair disease” and performed biochemical studies on frozen brain tissues of two siblings, which demonstrated a reduction in docosahexaenoic acid, the most highly unsaturated fatty acid in brain.
History of Menkes disease

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