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Hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC) is a treatable disease caused by mutations in the SLC30A10 gene.1,2 Because of its rarity, treatment data are limited. In most of the published literature, treatment consisted of calcium disodium EDTA (EDTA-CaNa2) for manganese chelation, oral iron to reduce intestinal manganese absorption, and dietary manganese restriction.1,3–5 EDTA-CaNa2 is unavailable in many regions, and the need for repeated intravenous infusions can cause inconvenience.1,6 Penicillamine has been used for manganese chelation in a few cases.3–5 Here, we report the treatment response to penicillamine in 2 patients of HMDPC.
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Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
Class of Evidence: NPub.org/coe
- Received April 27, 2020.
- Accepted in final form October 5, 2020.
- © 2020 American Academy of Neurology
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