Article
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Brain : a journal of neurology - 1 Feb 2014
Baker Peter R, Friederich Marisa W, Swanson Michael A, Shaikh Tamim, Bhattacharya Kaustuv, Scharer Gunter H, Aicher Joseph, Creadon-Swindell Geralyn, Geiger Elizabeth, MacLean Kenneth N, Lee Wang-Tso, Deshpande Charu, Freckmann Mary-Louise, Shih Ling-Yu, Wasserstein Melissa, Rasmussen Malene B, Lund Allan M, Procopis Peter, Cameron Jessie M, Robinson Brian H, Brown Garry K, Brown Ruth M, Compton Alison G, Dieckmann Carol L, Collard Renata, Coughlin Curtis R, Spector Elaine, Wempe Michael F, Van Hove Johan L K
Abstract excerpt
Patients with nonketotic hyperglycinemia and deficient glycine cleavage enzyme activity, but without mutations in AMT, GLDC or GCSH, the genes encoding its constituent proteins, constitute a clinical group which we call 'variant nonketotic hyperglycinemia'. We hypothesize that in some patients the aetiology involves genetic mutations that result in a deficiency of the cofactor lipoate, and sequenced genes...
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