L2HGDH
L-2-hydroxyglutarate dehydrogenase
Normal Function
Health Conditions Related to Genetic Changes
2-hydroxyglutaric aciduria
Researchers have identified more than 70 mutations in the L2HGDH gene that cause a type of 2-hydroxyglutaric aciduria known as L-2-hydroxyglutaric aciduria (L-2-HGA). This condition has a variety of signs and symptoms that result from progressive damage to the brain beginning early in life.
Some L2HGDH gene mutations change single protein building blocks (amino acids) in the L-2-hydroxyglutarate dehydrogenase enzyme, which likely impairs its function. Other mutations insert or delete genetic material in the gene or lead to the production of an abnormally short, nonfunctional version of the enzyme. With a shortage of functional enzyme, L-2-hydroxyglutarate is not broken down but instead builds up in cells. At high levels, this compound can damage cells and lead to cell death. Brain cells appear to be the most vulnerable to the toxic effects of this compound, which may explain why the signs and symptoms of L-2-HGA primarily involve the brain.
More About This Health ConditionRelated Conditions
2-hydroxyglutaric aciduria
Health Conditions Related to Genetic Changes
Researchers have identified more than 70 mutations in the L2HGDH gene that cause a type of 2-hydroxyglutaric aciduria known as L-2-hydroxyglutaric aciduria (L-2-HGA). This condition has a variety of signs and symptoms that result from progressive damage to the brain beginning early in life.
Some L2HGDH gene mutations change single protein building blocks (amino acids) in the L-2-hydroxyglutarate dehydrogenase enzyme, which likely impairs its function. Other mutations insert or delete genetic material in the gene or lead to the production of an abnormally short, nonfunctional version of the enzyme. With a shortage of functional enzyme, L-2-hydroxyglutarate is not broken down but instead builds up in cells. At high levels, this compound can damage cells and lead to cell death. Brain cells appear to be the most vulnerable to the toxic effects of this compound, which may explain why the signs and symptoms of L-2-HGA primarily involve the brain.