Literature summary for 1.1.99.2 extracted from

Penderis, J.; Calvin, J.; Abramson, C.; Jakobs, C.; Pettitt, L.; Binns, M.M.; Verhoeven, N.M.; ODriscoll, E.; Platt, S.R.; Mellersh, C.S.
L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model (2007), J. Med. Genet., 44, 334-340.

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Application

Application	Comment	Organism
medicine	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	Canis lupus familiaris

Organism

Organism	UniProt	Comment	Textmining
Canis lupus familiaris	-	canine, Staffordshire bull terriers	-

Synonyms

Synonyms	Comment	Organism
2-hydroxyglutarate dehydrogenase	L2HGDH	Canis lupus familiaris
L-2-hydroxyglutaric acid dehydrogenase	-	Canis lupus familiaris

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Release 2023.1 (January 2023)