KEGG   DISEASE: L-2-hydroxyglutaric aciduria
Entry
H01280                      Disease                                

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
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H01280  L-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
     H01280  L-2-hydroxyglutaric aciduria
Related
pathway
hsa00650  Butanoate metabolism
Gene
L2HGDH [HSA:79944] [KO:K00109]
Comment
D-2-hydroxyglutaric aciduria is described in H01225. [DS:H01225]
Other DBs
ICD-11: 5C50.E1
MeSH: C535306
OMIM: 236792
Reference
  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
Reference
  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
Reference
  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

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