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Hypermanganesemia with dystonia 1 (HMNDYT1, OMIM #613280) is caused by mutations in the manganese (Mn) transporter SLC30A10 and characterized by Mn deposition in the liver and brain. Affected individuals present… Click to show full abstract
Hypermanganesemia with dystonia 1 (HMNDYT1, OMIM #613280) is caused by mutations in the manganese (Mn) transporter SLC30A10 and characterized by Mn deposition in the liver and brain. Affected individuals present with dystonia–parkinsonism, liver disease, polycythemia, and markers of iron depletion. Brain magnetic resonance imaging (MRI) appearances are pathognomonic, and diagnosis is confirmed by genetic testing. The mainstay of treatment is chelation with disodium calcium edetate combined with iron supplementation. In this report, we describe the favorable response of an individual with HMNDYT1 to sole iron treatment.
Journal Title: Movement Disorders Clinical Practice
Year Published: 2020
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