Menkes Disease Medication

Updated: Dec 10, 2019
  • Author: Celia H Chang, MD; Chief Editor: Amy Kao, MD  more...
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Medication Summary

The goals of pharmacotherapy are to reduce morbidity and prevent complications. Infants that carry the mutation must be identified and treated very early in life before irreparable neurodegeneration occurs.


Trace Elements

Class Summary

Copper histidine used in this class has been shown to prevent neurodegeneration when administered early in life.

Copper histidine

Copper histidine is a copper replacement administered parenterally. Copper absorption through the gastrointestinal tract is impaired in Menkes disease. Patients with a genetic abnormality that are still able to produce limited amounts of ATP7A may receive benefit from early treatment. A dose of 350-500 µg IV/SC qDay or qod has been shown to be effective.