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Pathway Description
2-Hydroxyglutric Aciduria (D and L Form)
Homo sapiens
Disease Pathway
Created: 2013-08-20
Last Updated: 2022-12-14
L-2-Hydroxyglutaric Aciduria (D-2-Hydroxyglutaric Aciduria ) is an autosomal recessive disease caused by a mutation in the L2HGDH gene which codes for L-2-Hydroxygluarate dehydrogenase. A deficiency in this enzyme results in accumulation of L-2-Hydroxyglutaric acid in plasma, spinal fluid, and urine; and L-lysine in plasma and spinal fluid. Symptoms, which present at birth, include ataxia, hypotonia, mental retardation, and seizures. Premature death often results. D-2-Hydroxyglutaric Aciduria is an autosomal recessive disease caused by a mutation in the D2HGDH gene which does for D-2-Hydroxygluarate dehydrogenase. A deficiency in this enzyme results in accumulation of D-2-Hydroxyglutaric acid in plasma, spinal fluid, and urine; oxoglutaric acid in urine; and gabba-aminobutyric acid in spinal fluid. Symptoms, which present at birth, include ataxia, hypotonia, mental retardation, and seizures. Premature death often results.
References
2-Hydroxyglutric Aciduria (D and L Form) References
[Metagene: id_d=256](http://www.metagene.de/program/d.prg?id_d=256)
[Metagene: id_d=281](http://www.metagene.de/program/d.prg?id_d=281)
Fernandes, J., Saudubray, J., Van Den Berghe, G., Walter, J. Inborn metabolic diseases: diagnosis and treatment (4th ed) (2006) p.302-303. New York: Springer Publishing Company.
[OMIM: 236792](http://omim.org/entry/236792)
[OMIM: 600721](http://omim.org/entry/600721)
[OMIM: 613657](http://omim.org/entry/613657)
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Glutamate Metabolism References
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