2-Hydroxyglutaric aciduria
| 2-Hydroxyglutaric aciduria | |
|---|---|
| Classification and external resources | |
 Alpha-Hydroxyglutaric acid |
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| OMIM | 600721 236792 |
| DiseasesDB | 34515 34514 |
2-hydroxyglutaric aciduria is a rare autosomal recessive, or autosomal dominant neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid.
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[edit] Classification
2-hydroxyglutaric aciduria is an organic aciduria, and because of the stereoisomeric property of 2-hydroxyglutarate different variants of this disorder are distinguished:
[edit] L-2-hydroxyglutaric aciduria
The L-2 form is more common, severe, and mainly affects the central nervous system. The basal ganglia are affected, and cystic cavitations in the white matter of the brain are common, beginning in infancy. This form is chronic, with early symptoms such as hypotonia, tremors, and epilepsy declining into spongiform leukoencephalopathy, muscular choreodystonia, mental retardation, and psychomotor regression.[1]
It is associated with L2HGDH.[2]
[edit] D-2-hydroxyglutaric aciduria
The D2 form is rare, with symptoms including macrocephaly, cardiomyopathy, mental retardation, hypotonia, and cortical blindness.[3]
It can be associated with D2HGDH[4] (type I) or IDH2[5] (type II).
[edit] Combined D-2- and L-2-hydroxyglutaric aciduria
The combined form is also rare, and is characterized by severe early-onset epileptic encephalopathy and absence of developmental progress[6]. The genetic cause is unknown.
[edit] See also
[edit] References
- ^ Seijo-Martinez M, Navarro C, Castro del Rio M, Vila O, Puig M, Ribes A, Butron M (2005). "L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings". Arch Neurol. 62 (4): 666–670. doi:10.1001/archneur.62.4.666. PMID 15824270.
- ^ Topçu M, Jobard F, Halliez S, et al. (November 2004). "L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1". Hum. Mol. Genet. 13 (22): 2803–11. doi:10.1093/hmg/ddh300. PMID 15385440. http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=15385440.
- ^ Nyhan WL, Shelton GD, Jakobs C, Holmes B, Bowe C, Curry CJ, Vance C, Duran M, Sweetman L (1995). "D-2-hydroxyglutaric aciduria". J Child Neurol. 10 (2): 137–142. doi:10.1177/088307389501000216. PMID 7782605.
- ^ Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, Verhoeven NM, Jakobs C (Jan 2005). "Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria". Am J Hum Genet 76 (2): 358–60. doi:10.1086/427890. PMC 1196381. PMID 15609246. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1196381.
- ^ Kranendijk M, Struys EA, van Schaftingen E, et al. (2010). "IDH2 mutations in patients with D-2-hydroxyglutaric aciduria". Science 330 (6002): 336. doi:10.1126/science.1192632. PMID 20847235.
- ^ Muntau A, Röschinger W, Merkenschlager A, van der Knaap MS,et al. (2000). "Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?". Neuropediatrics 31 (3): 137-40. doi:10.1055/s-2000-7497. PMID 10963100.
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