{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:38:02Z","timestamp":1791326282086,"version":"4.3.1"},"reference-count":26,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,12,19]],"date-time":"2016-12-19T00:00:00Z","timestamp":1482105600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2016,12,19]],"date-time":"2016-12-19T00:00:00Z","timestamp":1482105600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"name":"New South Wales Office of Health and Medical Research"},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["1026891"],"award-info":[{"award-number":["1026891"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1008433"],"award-info":[{"award-number":["APP1008433"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    <jats:italic>SLC39A8<\/jats:italic>\n                    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\n                    <jats:italic>SLC39A8<\/jats:italic>\n                    variant in siblings with features of Leigh\u2010like mitochondrial disease. Two sisters born to consanguineous Lebanese parents had profound developmental delay, dystonia, seizures and failure to thrive. Brain MRI of both siblings identified bilateral basal ganglia hyperintensities on T2\u2010weighted imaging and cerebral atrophy. CSF lactate was elevated in patient 1 and normal in patient 2. Respiratory chain enzymology was only performed on patient 1 and revealed complex IV and II + III activity was low in liver, with elevated complex I activity. Complex IV activity was borderline low in patient 1 muscle and pyruvate dehydrogenase activity was reduced. Whole genome sequencing identified a homozygous Chr4(GRCh37):g.103236869C&gt;G; c.338G&gt;C; p.(Cys113Ser) variant in\n                    <jats:italic>SLC39A8<\/jats:italic>\n                    , located in one of eight regions identified by homozygosity mapping.\n                    <jats:italic>SLC39A8<\/jats:italic>\n                    encodes a manganese and zinc transporter which localises to the cell and mitochondrial membranes. Patient 2 blood and urine manganese levels were undetectably low. Transferrin electrophoresis of patient 2 serum revealed a type II CDG defect. Oral supplementation with galactose and uridine led to improvement of the transferrin isoform pattern within 14 days of treatment initiation. Oral manganese has only recently been added to the treatment. These results suggest SLC39A8 deficiency can cause both a type II CDG and Leigh\u2010like syndrome, possibly via reduced activity of the manganese\u2010dependent enzymes \u03b2\u2010galactosyltransferase and mitochondrial manganese superoxide dismutase.\n                  <\/jats:p>","DOI":"10.1007\/s10545-016-0010-6","type":"journal-article","created":{"date-parts":[[2016,12,19]],"date-time":"2016-12-19T08:14:15Z","timestamp":1482135255000},"page":"261-269","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":118,"title":["A\n                    <i>SLC39A8<\/i>\n                    variant causes manganese deficiency, and glycosylation and mitochondrial disorders"],"prefix":"10.1002","volume":"40","author":[{"given":"Lisa G.","family":"Riley","sequence":"first","affiliation":[{"name":"Genetic Metabolic Disorders Research Unit The Children's Hospital at Westmead KRI, Level 3, Locked Bag 4001 Westmead NSW 2145 Australia"},{"name":"Discipline of Paediatrics &amp; Child Health, Sydney Medical School University of Sydney Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark J.","family":"Cowley","sequence":"additional","affiliation":[{"name":"Kinghorn Centre for Clinical Genomics Garvan Institute of Medical Research Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Velimir","family":"Gayevskiy","sequence":"additional","affiliation":[{"name":"Kinghorn Centre for Clinical Genomics Garvan Institute of Medical Research Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tony","family":"Roscioli","sequence":"additional","affiliation":[{"name":"Kinghorn Centre for Clinical Genomics Garvan Institute of Medical Research Sydney NSW Australia"},{"name":"St Vincent's Clinical School University of New South Wales Sydney Australia"},{"name":"Department of Medical Genetics Sydney Children's Hospital Randwick Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David R.","family":"Thorburn","sequence":"additional","affiliation":[{"name":"Murdoch Childrens Research Institute and Victorian Clinical Genetics Services Royal Children's Hospital Melbourne VIC Australia"},{"name":"Department of Paediatrics University of Melbourne Melbourne VIC Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Prelog","sequence":"additional","affiliation":[{"name":"Medical Imaging Department The Children's Hospital at Westmead Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Bahlo","sequence":"additional","affiliation":[{"name":"Department of Medical Biology University of Melbourne Melbourne VIC Australia"},{"name":"Population Health and Immunity Division The Walter and Eliza Hall Institute of Medical Research Parkville VIC Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolyn M.","family":"Sue","sequence":"additional","affiliation":[{"name":"Kinghorn Centre for Clinical Genomics Garvan Institute of Medical Research Sydney NSW Australia"},{"name":"Department of Neurogenetics, Kolling Institute of Medical Research University of Sydney and Royal North Shore Hospital Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shanti","family":"Balasubramaniam","sequence":"additional","affiliation":[{"name":"Discipline of Paediatrics &amp; Child Health, Sydney Medical School University of Sydney Sydney NSW Australia"},{"name":"Western Sydney Genetics Program The Children's Hospital at Westmead Sydney NSW Australia"},{"name":"Discipline of Genetic Medicine, Sydney Medical School University of Sydney Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Christodoulou","sequence":"additional","affiliation":[{"name":"Genetic Metabolic Disorders Research Unit The Children's Hospital at Westmead KRI, Level 3, Locked Bag 4001 Westmead NSW 2145 Australia"},{"name":"Discipline of Paediatrics &amp; Child Health, Sydney Medical School University of Sydney Sydney NSW Australia"},{"name":"Murdoch Childrens Research Institute and Victorian Clinical Genetics Services Royal Children's Hospital Melbourne VIC Australia"},{"name":"Department of Paediatrics University of Melbourne Melbourne VIC Australia"},{"name":"Western Sydney Genetics Program The Children's Hospital at Westmead Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,12,19]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/497345"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp313"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajplung.00057.2008"},{"key":"e_1_2_9_5_1","doi-asserted-by":"crossref","unstructured":"BouchereauJBarrotSVDupreTetalAbnormal glycosylation profile and high alpha\u2010fetoprotein in a patient with Twinkle variantsJ Inherit Metab 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