KEGG DISEASE: D-2-hydroxyglutaric aciduria

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 disorder

Brite

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-based classification of diseases [BR:br08402]
Carbohydrate metabolism
  nt06031  Citrate cycle and pyruvate metabolism
   H01225  D-2-hydroxyglutaric aciduria

Pathway

2-Oxocarboxylic acid metabolism

Citrate cycle (TCA cycle)

Network

nt06031 Citrate cycle and pyruvate metabolism

Gene

(D2HGA1) D2HGDH [HSA:728294] [KO:K18204]
(D2HGA2) IDH2 [HSA:3418] [KO:K00031]

Other DBs

ICD-11:

MeSH:

OMIM:

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

PMID:15609246 (D2HGA1)

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

PMID:20847235 (D2HGA2)

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

LinkDB

» Japanese version

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