Article
Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans.
Human genetics - 1 Nov 2016
Alfadhel Majid, Nashabat Marwan, Qahtani Hanan Al, Alfares Ahmed, Mutairi Fuad Al, Shaalan Hesham Al, Douglas Ganka V, Wierenga Klaas, Juusola Jane, Alrifai Muhammad Talal, Arold Stefan T, Alkuraya Fowzan, Ali Qais Abu
Abstract excerpt
Glycine cleavage system (GCS) catalyzes the degradation of glycine and disruption of its components encoded by GLDC, AMT and GCSH are the only known causes of glycine encephalopathy, also known as non-ketotic hyperglycinemia (NKH). In this report, we describe a consanguineous family with one child who presented with NKH, but harbored no pathogenic variants in any of the three genes linked to this condition....
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