Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

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 w...

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Main Authors: 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
Format: Text
Language:English
Published: Springer Berlin Heidelberg 2016
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Original Investigation
Online Access:https://pmc.ncbi.nlm.nih.gov/articles/PMC5052303/
https://pubmed.ncbi.nlm.nih.gov/27481395
http://dx.doi.org/10.1007/s00439-016-1719-x
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https://pmc.ncbi.nlm.nih.gov/articles/PMC5052303/
https://pubmed.ncbi.nlm.nih.gov/27481395
http://dx.doi.org/10.1007/s00439-016-1719-x

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