KEGG   DISEASE: D-2-hydroxyglutaric aciduria
Entry
H01225                      Disease                                

Name
D-2-hydroxyglutaric aciduria
Description
D-2-hydroxyglutaric aciduria (D-2-HGA) is an autosomal recessive neurometabolic disorder. Clinical symptoms of D-2-HGA are developmental delay, epilepsy, hypotonia, and dysmorphic features. It has been suggested that mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Recently, IDH2 mutations in patients with D-2-HGA were reported.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H01225  D-2-hydroxyglutaric aciduria
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H01225  D-2-hydroxyglutaric aciduria
Pathway
hsa00020  Citrate cycle (TCA cycle)
hsa00480  Glutathione metabolism
Gene
D2HGDH [HSA:728294] [KO:K18204]
IDH2 [HSA:3418] [KO:K00031]
Other DBs
ICD-11: 5C50.E1
MeSH: C535306
OMIM: 613657 600721
Reference
  Authors
Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, Verhoeven NM, Jakobs C
  Title
Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.
  Journal
Am J Hum Genet 76:358-60 (2005)
DOI:10.1086/427890
Reference
  Authors
Struys EA
  Title
D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect.
  Journal
J Inherit Metab Dis 29:21-9 (2006)
DOI:10.1007/s10545-006-0317-9
Reference
  Authors
Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van der Knaap MS, Amiel J, Buist NR, Das AM, de Klerk JB, Feigenbaum AS, Grange DK, Hofstede FC, Holme E, Kirk EP, Korman SH, Morava E, Morris A, Smeitink J, Sukhai RN, Vallance H, Jakobs C, Salomons GS
  Title
IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.
  Journal
Science 330:336 (2010)
DOI:10.1126/science.1192632
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