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Article

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

Journal of inherited metabolic disease - 1 Mar 2017

Riley Lisa G, Cowley Mark J, Gayevskiy Velimir, Roscioli Tony, Thorburn David R, Prelog Kristina, Bahlo Melanie, Sue Carolyn M, Balasubramaniam Shanti, Christodoulou John

Abstract excerpt

SLC39A8 variants have recently been reported to cause a type II congenital disorder of glycosylation (CDG) in patients with intellectual disability and cerebellar atrophy. Here we report a novel SLC39A8 variant in siblings with features of Leigh-like mitochondrial disease. Two sisters born to consanguineous Lebanese parents had profound developmental delay, dystonia, seizures and failure to thrive. Brain MRI of...

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PMID: 27995398
DOI: 10.1007/s10545-016-0010-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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