| 词条 | 2-Hydroxyglutaric aciduria |
| 释义 |
| name = 2-Hydroxyglutaric aciduria | synonyms = | image = Alpha-hydroxyglutaric acid.png | caption = Alpha-Hydroxyglutaric acid | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}2-hydroxyglutaric aciduria is a rare neurometabolic disorder characterized by the significantly elevated levels of hydroxyglutaric acid in ones urine. It is either autosomal recessive or autosomal dominant.[1] PresentationThe signs/symptoms of this condition are consistent with the following:[2]
Cause{{Empty section|date=January 2017}}DiagnosisClassification2-hydroxyglutaric aciduria is an organic aciduria, and because of the stereoisomeric property of 2-hydroxyglutarate different variants of this disorder are distinguished: L-2-hydroxyglutaric aciduriaThe 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.[3] It is associated with L2HGDH, which encodes L-2-hydroxyglutarate dehydrogenase.[4] L-2-hydroxyglutarate is produced by promiscuous action of malate dehydrogenase on 2-oxoglutarate, and L-2-hydroxyglutarate dehydrogenase is an example of a metabolite repair enzyme that oxidizes L-2-hydroxyglutarate back to 2-oxoglutarate.[5] D-2-hydroxyglutaric aciduriaThe D2 form is rare, with symptoms including macrocephaly, cardiomyopathy, mental retardation, hypotonia, and cortical blindness.[6] It is caused by recessive mutations in D2HGDH[7] (type I) or by dominant gain-of-function mutations in IDH2[8] (type II). Combined D-2- and L-2-hydroxyglutaric aciduriaThe combined form is characterized by severe early-onset epileptic encephalopathy and absence of developmental progress.[9] It is caused by recessive mutations in SLC25A1 encoding the mitochondrial citrate carrier.[10] TreatmentThe treatment of 2-Hydroxyglutaric aciduria is based on seizure control, the prognosis depends on how severe the condition is.[11] See also
References1. ^{{cite web|last1=Reference|first1=Genetics Home|title=2-hydroxyglutaric aciduria|url=https://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria#inheritance|website=Genetics Home Reference|accessdate=25 January 2017|language=en}} 2. ^{{cite web|title=L-2-hydroxyglutaric aciduria {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program|url=https://rarediseases.info.nih.gov/diseases/10472/l-2-hydroxyglutaric-aciduria|website=rarediseases.info.nih.gov|accessdate=25 January 2017|language=en}} 3. ^{{cite journal |vauthors=Seijo-Martinez M, Navarro C, Castro del Rio M, Vila O, Puig M, Ribes A, Butron M |title=L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings |journal=Arch. Neurol. |volume=62 |issue=4 |pages=666–670 |year=2005 |pmid=15824270 |doi=10.1001/archneur.62.4.666 }} 4. ^{{cite journal |vauthors=Topçu M, Jobard F, Halliez S |title=L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1 |journal=Hum. Mol. Genet. |volume=13 |issue=22 |pages=2803–11 |date=November 2004 |pmid=15385440 |doi=10.1093/hmg/ddh300 |url=http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=15385440|display-authors=etal}} 5. ^{{Cite journal|last=Van Schaftingen|first=E.|last2=Rzem|first2=R.|last3=Veiga-da-Cunha|first3=M.|date=2009-04-01|title=L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair|journal=Journal of Inherited Metabolic Disease|volume=32|issue=2|pages=135–142|doi=10.1007/s10545-008-1042-3|issn=1573-2665|pmid=19020988}} 6. ^{{cite journal |vauthors=Nyhan WL, Shelton GD, Jakobs C, Holmes B, Bowe C, Curry CJ, Vance C, Duran M, Sweetman L |title=D-2-hydroxyglutaric aciduria |journal=J. Child Neurol. |volume=10 |issue=2 |pages=137–142 |year=1995 |pmid=7782605 |doi=10.1177/088307389501000216 }} 7. ^{{cite journal |vauthors=Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, Verhoeven NM, Jakobs C | title = Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria | journal = Am J Hum Genet | volume = 76 | issue = 2 | pages = 358–60 |date=Jan 2005 | pmid = 15609246 | pmc = 1196381 | doi = 10.1086/427890 }} 8. ^{{cite journal |vauthors=Kranendijk M, Struys EA, van Schaftingen E |title=IDH2 mutations in patients with D-2-hydroxyglutaric aciduria |journal=Science |volume=330 |issue=6002 |pages=336 |year=2010 |pmid=20847235 |doi=10.1126/science.1192632 |display-authors=etal}} 9. ^{{cite journal |vauthors=Muntau A, Röschinger W, Merkenschlager A, van der Knaap MS |title=Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria? |journal=Neuropediatrics |volume=31 |issue=3 |pages=137–40 |year=2000 |pmid=10963100 |doi=10.1055/s-2000-7497 |display-authors=etal}} 10. ^{{cite journal |author=Nota B|title=Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria.|journal=The American Journal of Human Genetics|volume=92|issue=4|pages=627–631|year=2013|pmid=23561848|doi=10.1016/j.ajhg.2013.03.009|display-authors=etal|pmc=3617390}} 11. ^{{cite web|last1=RESERVED|first1=INSERM US14 -- ALL RIGHTS|title=Orphanet: D 2 hydroxyglutaric aciduria|url=http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=79315|website=www.orpha.net|accessdate=25 January 2017|language=en}} External links{{Medical resources| DiseasesDB = 34515 | ICD10 = | ICD9 = | ICDO = | OMIM = 600721 | OMIM_mult = {{OMIM2|236792}}{{OMIM2|613657}}{{OMIM2|615182}} | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = }}{{Amino acid metabolic pathology}}{{Medicine}} 3 : Inborn errors of metabolism|Autosomal recessive disorders|Rare diseases |
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