Hypermanganesemia with dystonia

Definition:

Hypermanganesemia with dystonia (HMNDYT) is an autosomal recessive disorder of manganese (Mn) homeostasis. Loss-of-function mutations in SLC30A10, a Mn efflux transporter, or SLC39A14, a Mn influx transporter, increase Mn levels in blood and brain, and induce severe neurotoxicity.

References:

[1]. Karin Tuschl, et al. Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nat Commun. 2016 May 27;7:11601. [Content Brief]

[2]. Karin Tuschl, et al. Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man. Am J Hum Genet. 2012 Mar 9;90(3):457-66. [Content Brief]

[3]. Somshuvra Mukhopadhyay, et al. Familial manganese-induced neurotoxicity due to mutations in SLC30A10 or SLC39A14. Neurotoxicology. 2018 Jan;64:278-283. [Content Brief]

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