{"id":27117,"date":"2024-05-26T12:59:28","date_gmt":"2024-05-26T10:59:28","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27117"},"modified":"2025-08-26T11:25:35","modified_gmt":"2025-08-26T09:25:35","slug":"l-2-hydroxyglutaric-aciduria","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/l-2-hydroxyglutaric-aciduria\/","title":{"rendered":"L-2-Hydroxyglutaric Aciduria"},"content":{"rendered":"

L-2-Hydroxyglutaric Aciduria \u2013\u00a0Definition<\/h2><\/div>
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L-2-hydroxyglutaric aciduria (L2HGA, OMIM #236792) is a neurometabolic genetic disorder caused by pathogenic variants in the L2HGDH gene<\/em>. It is characterized by cerebellar ataxia, psychomotor retardation, epilepsy, and microcephaly of varying severity.<\/p>\n<\/div>

Synonym:<\/p>\n<\/div><\/div><\/div>

L-2-hydroxy glutaric acidemia<\/p>\n<\/div><\/div><\/div><\/div>

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Gene:<\/p>\n<\/div><\/div><\/div>

L2HGDH<\/em> (L-2-hydroxyglutarate dehydrogenase gene)<\/p>\n<\/div><\/div><\/div><\/div>

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Gene \u00adproduct:<\/p>\n<\/div><\/div><\/div>

L2HGDH (L-2-hydroxyglutarate dehydrogenase)<\/p>\n<\/div><\/div><\/div><\/div>

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Function:<\/p>\n<\/div><\/div><\/div>

L2HGDH catalyzes the conversion of L-2-hydroxyglutaric acid (L2HG) into 2 ketoglutarate. The function of L2HG is still unknown.<\/p>\n<\/div><\/div><\/div><\/div>

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Pattern of inheritance:<\/p>\n<\/div><\/div><\/div>

Autosomal recessive<\/p>\n<\/div><\/div><\/div><\/div>

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Prevalence:<\/p>\n<\/div><\/div><\/div>

<1:1.000.000<\/p>\n<\/div><\/div><\/div><\/div>

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Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div>

All in all, there are only a few phenotypical differences.
\nUrinary excretion of L2HG is considerably reduced in patients with pathogenic a c.905C>T variant than in patients with a pathogenic c.530_533delinsATT variant, although there are no apparent phenotypic differences.<\/p>\n<\/div><\/div><\/div><\/div>

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Penetrance:<\/p>\n<\/div><\/div><\/div>

All patients exhibit an elevated level of L-2-hydroxyglutaric acid in the urine.<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>

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Overview of the Chapters on This Page:<\/h4><\/div><\/div><\/div>