Menkes Disease Treatment & Management

Updated: Oct 29, 2014
  • Author: Celia H Chang, MD; Chief Editor: Amy Kao, MD  more...
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Treatment

Approach Considerations

In families with a previous affected child, genetics consultation and counseling with prenatal testing can be done for future pregnancies.

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Medical Care

Oral treatment with copper salts such as the sulfate, acetate, or chloride does not alter serum copper and ceruloplasmin levels. Parenteral copper induces synthesis of apoceruloplasmin and the WND gene, resulting in increase of serum copper and ceruloplasmin levels; however, the cerebral copper levels do not change and no clinical improvement ensues.

Treatment with copper chloride and/or L-histidine should be provided by a clinician familiar with their use. Copper chloride and L-histidine solutions of 350-500 µg/d or qod injected intravenously or subcutaneously increase the serum and cerebrospinal fluid copper levels to the normal range after 6 weeks. This treatment seems to improve symptoms related to copper efflux from the cell. Metaphyseal widening and spurring and periosteal thickening regress. Bone maturation progresses, although mineralization is still defective. The ratio of DOPA/DHPG normalizes. However, the connective-tissue defects do not respond to parenteral copper histidine treatment.

Newborns and fetuses treated in utero with copper histidine can avoid neurologic symptoms. Unfortunately, the neurologic symptoms, once present, are less amenable to treatment. Sheela et al reported that a 15-month-old who was treated with subcutaneous copper supplementation for 30 months became seizure free and the skin and hair darkened, but the child continued to have severe developmental delay. [14]

Early treatment of the brindled mouse prevents neurological symptoms, but if therapy is delayed beyond 10 days of life, the animal dies. The brindled mouse responds to therapy at a stage of brain development that corresponds to the third trimester in humans.

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