1.1.99.2: L-2-hydroxyglutarate dehydrogenase
This is an abbreviated version!
For detailed information about L-2-hydroxyglutarate dehydrogenase, go to the full flat file.
Word Map on EC 1.1.99.2
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1.1.99.2
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aciduria
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neurometabolic
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ataxia
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l-2-hga
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subcortical
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psychomotor
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oncometabolite
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neuroradiological
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terrier
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extrapyramidal
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macrocephaly
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d2hgdh
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leukoencephalopathy
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hyperintensity
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medicine
- 1.1.99.2
-
aciduria
-
neurometabolic
-
ataxia
-
l-2-hga
-
subcortical
-
psychomotor
-
oncometabolite
-
neuroradiological
-
terrier
-
extrapyramidal
-
macrocephaly
- d2hgdh
- leukoencephalopathy
-
hyperintensity
- medicine
Reaction
Synonyms
2-hydroxyglutarate dehydrogenase, alpha-hydroxyglutarate dehydrogenase, alpha-hydroxyglutarate dehydrogenase (NAD+ specific), alpha-hydroxyglutarate oxidoreductase, alpha-ketoglutarate reductase, dehydrogenase, 2-hydroxyglutarate, hydroxyglutaric dehydrogenase, L-2-HG dehydrogenase, L-2-HGDH, L-2-hydroxyglutarate dehydrogenase, L-2-hydroxyglutaric acid dehydrogenase, L-2HG dehydrogenase, L-2HGDH, L-alpha-hydroxyglutarate dehydrogenase, L-alpha-hydroxyglutarate:NAD+ 2-oxidoreductase, L2HGDH
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medicine
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L-2-hydroxyglutaric aciduria is a neurometabolic disorder that produces a variety of clinical neurological deficits, mutations within the gene L2HGDH encoding L-2-hydroxyglutaric acid dehydrogenase causes the disease, the canine model shares many of the clinical features of the disease in humans and represents a valuable resource as a spontaneous model of L-2-hydroxyglutaric aciduria
medicine
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L-2-hydroxyglutaric aciduria is a rare autosomal recessive neurometabolic organic aciduria, case report, mutation analysis and measurement of L-2-hydroxyglutaric acid in the amniotic fluid is used for prenatal diagnosis of the disease
medicine
an enzyme assay for the determination of L-2-hydroxyglutarate dehydrogenase activity in cells derived from L-2-hydroxyglutaric aciduria patients is developed and implemented