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 characterised by manganese neurotoxicity while SLC39A8 mutations cause a congenital disorder of glycosylation type IIn due to Mn deficiency.

Summary

Inherited manganese transporter defects are an important differential diagnosis of paediatric movement disorders. Manganese blood levels and MRI brain are diagnostic and allow early diagnosis to avoid treatment delay.

中文翻译：

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锰代谢的遗传障碍。

审查目的

本文概述了遗传性锰转运蛋白缺陷的发病机理，临床表现和治疗方法。

最近的发现

鉴定一组新的锰转运病极大地增进了我们对体内锰稳态调控的理解。锰外流转运蛋白SLC30A10和吸收转运蛋白SLC39A14协同工作以降低锰负荷，而SLC39A8具有促进锰向生物体内吸收的相反功能。这些转运蛋白中的任何一个的双等位基因突变都会破坏锰平衡并导致神经系统疾病：肌张力障碍1（SLC30A10缺乏症）的高锰血症和肌张力障碍2（SLC39A14缺乏症）的高锰血症的特征是锰神经毒性，而SLC39A8突变会导致先天性疾病锰缺乏导致糖化型IIn。

概要

遗传的锰转运蛋白缺陷是小儿运动障碍的重要鉴别诊断。锰血水平和MRI脑可进行诊断，并允许早期诊断以避免治疗延迟。