2-Hydroxyglutaric aciduria

2-Hydroxyglutaric aciduria
2-Hydroxyglutaric aciduria
Classification and external resources

Alpha-Hydroxyglutaric acid
OMIM 600721 236792
DiseasesDB 34515 34514

2-hydroxyglutaric aciduria is a rare, autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid.

Contents

Classification

Both forms of 2-Hydroxyglutaric aciduria have an autosomal recessive pattern of inheritance.

2-hydroxyglutaric aciduria is an organic aciduria, and has two distinct stereoisomeric variants:

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]

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.

See also

References

  1. ^ 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. 
  2. ^ 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. 
  3. ^ 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. 

Wikimedia Foundation. 2010.

Игры ⚽ Поможем решить контрольную работу

Look at other dictionaries:

  • 3-Methylglutaconic aciduria — Classification and external resources 3 methylglutaconic acid DiseasesDB …   Wikipedia

  • Glutaric aciduria type 1 — DiseaseDisorder infobox Name = Glutaric acidemia type 1 ICD10 = ICD10|E|72|3|e|70 ICD9 = ICDO = Caption = Glutaric acid OMIM = 231670 MedlinePlus = eMedicineSubj = eMedicineTopic = DiseasesDB = 29830 Glutaric acidemia type 1 (or Glutaric Aciduria …   Wikipedia

  • L2HGDH — L 2 hydroxyglutarate dehydrogenase, also known as L2HGDH, is a human gene.cite web | title = Entrez Gene: L2HGDH L 2 hydroxyglutarate dehydrogenase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=79944|… …   Wikipedia

  • D2HGDH — D 2 hydroxyglutarate dehydrogenase Identifiers Symbols D2HGDH; D2HGD; FLJ42195; MGC25181 External IDs …   Wikipedia

  • Methylmalonic acidemia — Classification and external resources Methylmalonic acid ICD 10 E …   Wikipedia

  • Organic acidemia — Organic acidemia, also called organic aciduria, is a term used to classify a group of metabolic disorders which disrupt normal amino acid metabolism, particularly branched chain amino acids, causing a buildup of acids which are usually not… …   Wikipedia

  • Inborn error of metabolism — Classification and external resources ICD 10 E70 E90 ICD 9 …   Wikipedia

  • D-Glyceric acidemia — Classification and external resources OMIM 220120 D Glyceric Acidemia (a.k.a. D Glyceric Aciduria) is an inherited disease, in the category of inborn errors of metabolism. It is caused by a mutation in the gene GLYCTK, which encodes the for the… …   Wikipedia

  • Staffordshire Bull Terrier — Espèce chien (Canis lupus familiaris) …   Wikipédia en Français

  • Oculocerebrorenal syndrome — Classification and external resources ICD 10 E72.0 ICD 9 270.8 …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”