| H01280 | |
| H number | H01280 |
| Name | L-2-hydroxyglutaric aciduria |
| Description | L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive neurometabolic disorder characterized by progressive ataxia, mental deficiency with subcortical leukoencephalopathy, and cerebellar atrophy. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | L2HGDH [HSA:79944] [KO:K00109] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | D-2-hydroxyglutaric aciduria is described in H01225. [DS:H01225] |
| Other DBs | ICD-11: 5C50.E1 MeSH: C535306 OMIM: 236792 |
| Reference | PMID:15548604 AUTHORS Rzem R, Veiga-da-Cunha M, Noel G, Goffette S, Nassogne MC, Tabarki B, Scholler C, Marquardt T, Vikkula M, Van Schaftingen E TITLE A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. JOURNAL Proc Natl Acad Sci U S A 101:16849-54 (2004) DOI:10.1073/pnas.0404840101 PMID:15385440 AUTHORS Topcu M, Jobard F, Halliez S, Coskun T, Yalcinkayal C, Gerceker FO, Wanders RJ, Prud'homme JF, Lathrop M, Ozguc M, Fischer J TITLE L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. JOURNAL Hum Mol Genet 13:2803-11 (2004) DOI:10.1093/hmg/ddh300 PMID:16134148 AUTHORS Vilarinho L, Cardoso ML, Gaspar P, Barbot C, Azevedo L, Diogo L, Santos M, Carrilho I, Fineza I, Kok F, Chorao R, Alegria P, Martins E, Teixeira J, Cabral Fernandes H, Verhoeven NM, Salomons GS, Santorelli FM, Cabral P, Amorim A, Jakobs C TITLE Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin. JOURNAL Hum Mutat 26:395-6 (2005) DOI:10.1002/humu.9373 |