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Results 1 - 4 of 4

EC Number	Natural Substrates	Commentary (Nat. Sub.)
1.1.99.39	(R)-2-hydroxyglutarate + acceptor	-
1.1.99.39	(R)-2-hydroxyglutarate + electron transfer flavoprotein	-
1.1.99.39	(S)-2-hydroxyglutarate + acceptor	necessary step in the serine biosynthetic pathway
1.1.99.39	more	description of two pathogenic mutations in the D-2-hydroxyglutarate dehydrogenase gene causing D-2-HGA with a very mild clinical presentation: a splice error (IVS4-2A->G) and a missense mutation (c.1315A->G, p.Asn439Asp). Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause bith the severe and mild phenotypes of D-2-HGA

Results 1 - 4 of 4

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Release 2023.1 (January 2023)