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An inherited disorder characterised by hypermanganesemia. Manganese accumulates in the region of the brain responsible for the coordination of movement causing dystonia and other uncontrolled movements. This disease is caused by mutations in the SLC39A14 gene responsible for instructions for proteins that transport manganese across cell membranes. Because SLC39A14 gene mutations prevent manganese from entering liver cells, this disease does not cause liver damage. Polycythaemia is also absent but the reason for this is unknown. Inherited in an autosomal recessive pattern.
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An inherited disorder characterized by hypermanganesemia. Manganese accumulates in the region of the brain responsible for the coordination of movement causing dystonia and other uncontrolled movements. This disease is caused by mutations in the SLC39A14 gene responsible for instructions for proteins that transport manganese across cell membranes. Because SLC39A14 gene mutations prevent manganese from entering liver cells, this disease does not cause liver damage. Polycythemia is also absent but the reason for this is unknown. Inherited in an autosomal recessive pattern.
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