Long surviving classical Menkes disease treated with weekly intravenous copper therapy.

Journal: Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (GMS)
Treatment Used: Weekly intravenous copper therapy
Number of Patients: 1
MediFind Summary

Overview: The aim of the study was to report the outcomes of a case of Menkes disease.

Conclusion: Weekly intravenous copper therapy seems to be effective for Menkes disease, in the short-term. 

Abstract

Menkes diseases (MD) is an X-linked recessive neurodegenerative disorder of copper metabolism, characterized by progressive multisystemic involvement. Death in the early childhood is usually observed in classical patients. Although a definite cure has not been established, copper replacement therapy administered parenterally may modify the severity of MD and permitted survival into adolescence. Subcutaneous copper-histidine supplementation is the current choice of therapy, and long-term administration is not desirable because of the expected nephrotoxicity. We report here the case of a 29-year-old male with MD who tolerated long-term intravenous copper therapy initiated at 2 months. Molecular analysis revealed hemizygous deletion mutation of ATP7A previously reported in classical MD. Although neurodevelopement is poor, no major event of central nervous system is observed, and he enjoys a good social life by interacting using gestures. Optimum management is unknown, and closed follow-up is mandatory for clarification of this phenotype.

Authors
Reina Ogata, Pin Chong, Kenichi Maeda, Toru Imagi, Ryoko Nakamura, Nobuko Kawamura, Ryutaro Kira

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