| H01225 | |
| H number | H01225 |
| 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 |
| Network | nt06031(H01225) Citrate cycle and pyruvate metabolism |
| Gene | (D2HGA1) D2HGDH [HSA:728294] [KO:K18204] (D2HGA2) IDH2 [HSA:3418] [KO:K00031] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C50.E1 MeSH: C535306 OMIM: 600721 613657 |
| Reference | PMID:16601864 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 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 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 |