KEGG DISEASE: Combined D-2- and L-2-hydroxyglutaric aciduria

KEGG

DISEASE: Combined D-2- and L-2-hydroxyglutaric aciduria

Entry

H02304                      Disease

Name

Combined D-2- and L-2-hydroxyglutaric aciduria

Description

Combined D-2- and L-2-hydroxyglutaric aciduria (D,L-2-HGA), characterized by elevated levels of both D-2-hydroxyglutarate (HG) and L-2-HG in body fluids, mainly manifests in a severe neonatal epileptic encephalopathy, absence of developmental progress, and often early death. Recessive mutations in SLC25A1, the mitochondrial citrate carrier, have been reported in individuals with D,L-2-HGA.

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
     H02304  Combined D-2- and L-2-hydroxyglutaric aciduria

Gene

SLC25A1 [HSA:6576] [KO:K15100]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Nota B, Struys EA, Pop A, Jansen EE, Fernandez Ojeda MR, Kanhai WA, Kranendijk M, van Dooren SJ, Bevova MR, Sistermans EA, Nieuwint AW, Barth M, Ben-Omran T, Hoffmann GF, de Lonlay P, McDonald MT, Meberg A, Muntau AC, Nuoffer JM, Parini R, Read MH, Renneberg A, Santer R, Strahleck T, van Schaftingen E, van der Knaap MS, Jakobs C, Salomons GS

Title

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.

Journal

Am J Hum Genet 92:627-31 (2013)
DOI:10.1016/j.ajhg.2013.03.009

Reference

Authors

Muntau AC, Roschinger W, Merkenschlager A, van der Knaap MS, Jakobs C, Duran M, Hoffmann GF, Roscher AA

Title

Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?

Journal

Neuropediatrics 31:137-40 (2000)
DOI:10.1055/s-2000-7497

LinkDB

» Japanese version

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