Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.

Struys, Eduard A;Korman, Stanley H;Salomons, Gajja S;Darmin, Patricia S;Jakobs, Cornelis;et.al.
(2005) Annals of Neurology — Vol. 58, n° 4, p. 626-630 (2005)

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Authors
  • Struys, Eduard A
    Author
  • Korman, Stanley H
    Author
  • Salomons, Gajja S
    Author
  • Darmin, Patricia S
    Author
  • Achouri, YounesUCLouvain
    Author
  • Van Schaftingen, EmileUCLouvain
    Author
  • Jakobs, Cornelis
    Author
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Abstract
D-2-hydroxyglutaric aciduria is a neurometabolic disorder with mild and severe phenotypes. Recently, we reported pathogenic mutations in the D-2-hydroxyglutarate dehydrogenase gene as the cause of the severe phenotype of D-2-hydroxyglutaric aciduria in two patients. Here, we report two novel pathogenic mutations in this gene in one patient with a mild presentation and two asymptomatic siblings with D-2-hydroxyglutaric aciduria from two unrelated consanguineous Palestinian families: a splice error (IVS4-2A-->G) and a missense mutation (c.1315A-->G;p.Asn439Asp). Overexpression of this mutant protein showed marked reduction of the enzyme activity.
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Struys, E. A., Korman, S. H., Salomons, G. S., Darmin, P. S., Achouri, Y., Van Schaftingen, E., Verhoeven, N. M., & Jakobs, C. (2005). Mutations in phenotypically mild D-2-hydroxyglutaric aciduria. Annals of Neurology, 58(4), 626-630. https://doi.org/10.1002/ana.20559 (Original work published 2005)