A novel homozygous SLC39A14 variant in an infant with hypermanganesemia and a review of the literature

A novel homozygous SLC39A14 variant in an infant with hypermanganesemia and a review of the literature

BackgroundManganese (Mn) is an essential trace metal necessary for good health; however, excessive amounts in the body are neurotoxic. To date, three genes (SLC30A10, SLC39A8, and SLC39A14) have been discovered to cause inborn errors in Mn metabolism in humans. As very rare diseases, the clinical fe...

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Bibliographic Details
Main Authors: Meijiao Zhang, Liping Zhu, Huiping Wang, Ying Hao, Qingping Zhang, Chunyan Zhao, Xinhua Bao
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-01-01
Series:Frontiers in Pediatrics
Subjects:
hypermanganesemia
dystonia
spasticity
SLC39A14
HMNDYT2
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.949651/full

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