Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.

doi:10.1002/humu.21186

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Article

Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.

Human mutation - 1 Mar 2010

Kranendijk Martijn, Struys Eduard A, Gibson K Michael, Wickenhagen Wjera V, Abdenur Jose E, Buechner Jochen, Christensen Ernst, de Kremer Raquel Dodelson, Errami Abdellatif, Gissen Paul, Gradowska Wanda, Hobson Emma, Islam Lily, Korman Stanley H, Kurczynski Thaddeus, Maranda Bruno, Meli Concetta, Rizzo Cristiano, Sansaricq Claude, Trefz Friedrich K, Webster Rachel, Jakobs Cornelis, Salomons Gajja S

Abstract excerpt

We performed molecular, enzyme, and metabolic studies in 50 patients with D-2-hydroxyglutaric aciduria (D-2-HGA) who accumulated D-2-hydroxyglutarate (D-2-HG) in physiological fluids. Presumed pathogenic mutations were detected in 24 of 50 patients in the D-2-hydroxyglutarate dehydrogenase (D2HGDH) gene, which encodes D-2-hydroxyglutarate dehydrogenase (D-2-HGDH). Enzyme assay of D-2-HGDH confirmed that all...

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PMID: 20020533
DOI: 10.1002/humu.21186

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