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Literature summary for 1.1.99.39 extracted from

  • Struys, E.A.; Korman, S.H.; Salomons, G.S.; Darmin, P.S.; Achouri, Y.; van Schaftingen, E.; Verhoeven, N.M.; Jakobs, C.
    Mutations in phenotypically mild D-2-hydroxyglutaric aciduria (2005), Ann. Neurol., 58, 626-630.
    View publication on PubMed

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens 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 ?
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Organism

Organism UniProt Comment Textmining
Homo sapiens
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-
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Source Tissue

Source Tissue Comment Organism Textmining
blood
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Homo sapiens
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information 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 Homo sapiens ?
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?

Synonyms

Synonyms Comment Organism
D-2-HGA
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Homo sapiens