Genetic Disorders of Manganese Metabolism.

ABSTRACT:

Purpose of review

This article provides an overview of the pathogenesis, clinical presentation and treatment of inherited manganese transporter defects.

Recent findings

Identification of a new group of manganese transportopathies has greatly advanced our understanding of how manganese homeostasis is regulated in vivo. While the manganese efflux transporter SLC30A10 and the uptake transporter SLC39A14 work synergistically to reduce the manganese load, SLC39A8 has an opposing function facilitating manganese uptake into the organism. Bi-allelic mutations in any of these transporter proteins disrupt the manganese equilibrium and lead to neurological disease: Hypermanganesaemia with dystonia 1 (SLC30A10 deficiency) and hypermanganesaemia with dystonia 2 (SLC39A14 deficiency) are

SUBMITTER: Anagianni S 

PROVIDER: S-EPMC6517356 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature