期刊
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS
卷 19, 期 6, 页码 -出版社
SPRINGER
DOI: 10.1007/s11910-019-0942-y
关键词
SLC30A10; SLC39A14; SLC39A8; HMNDYT1; HMNDYT2; Manganese
资金
- National Institute of Health Research
- Academy of Medical Sciences
- Great Ormond Street Hospital Children's Charity (UK)
- Action Medical Research
Purpose of ReviewThis article provides an overview of the pathogenesis, clinical presentation and treatment of inherited manganese transporter defects.Recent FindingsIdentification 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.SummaryInherited 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.
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