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Annals of Indian Academy of Neurology
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AIAN REVIEW
Year : 2021  |  Volume : 24  |  Issue : 1  |  Page : 15-21

Inherited manganese disorders and the brain: What neurologists need to know


1 Department of Pediatrics (Neurology Division), Lady Hardinge Medical College and Kalawati Saran Children's Hospital, New Delhi, India
2 Department of Neurology, Lady Hardinge Medical College and Smt. Sucheta Kriplani Hospital, New Delhi, India
3 Institute of Neurosciences, Medanta Medicity, Gurgaon, Haryana, India

Correspondence Address:
Dr. Suvasini Sharma
Department of Pediatrics (Neurology Division), Lady Hardinge Medical College and Kalawati Saran Childrenfs Hospital, New Delhi
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/aian.AIAN_789_20

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Although acquired manganese neurotoxicity has been widely reported since its first description in 1837 and is popularly referred to as “manganism,” inherited disorders of manganese homeostasis have received the first genetic signature as recently as 2012. These disorders, predominantly described in children and adolescents, involve mutations in three manganese transporter genes, i.e., SLC30A10 and SLC39A14 which lead to manganese overload, and SLC39A8, which leads to manganese deficiency. Both disorders of inherited hypermanganesemia typically exhibit dystonia and parkinsonism with relatively preserved cognition and are differentiated by the occurrence of polycythemia and liver involvement in the SLC30A10-associated condition. Mutations in SLC39A8 lead to a congenital disorder of glycosylation which presents with developmental delay, failure to thrive, intellectual impairment, and seizures due to manganese deficiency. Chelation with iron supplementation is the treatment of choice in inherited hypermanganesemia. In this review, we highlight the pathognomonic clinical, laboratory, imaging features and treatment modalities for these rare disorders.


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