Literature summary for 1.1.99.2 extracted from

Augoustides-Savvopoulou, P.; Salomons, G.S.; Dotis, J.; Roilides, E.; Leontsini, M.; Jakobs, C.; Panteliadis, C.
Mutation analysis a prerequisite for prenatal diagnosis of L-2-hydroxyglutaric aciduria? (2007), Mol. Genet. Metab., 91, 399-401.

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Application

Application	Comment	Organism
medicine	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	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Synonyms

Synonyms	Comment	Organism
2-hydroxyglutarate dehydrogenase	L2HGDH	Homo sapiens
L-2-hydroxyglutaric acid dehydrogenase	-	Homo sapiens

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Release 2023.1 (January 2023)