{"id":11811,"date":"2025-07-26T00:24:42","date_gmt":"2025-07-25T22:24:42","guid":{"rendered":"https:\/\/valintermed.com\/?p=11811"},"modified":"2025-07-26T00:24:42","modified_gmt":"2025-07-25T22:24:42","slug":"l-2-gidroksiglutarovaya-atsiduriya","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/l-2-gidroksiglutarovaya-atsiduriya\/","title":{"rendered":"L-2-hydroxyglutaric aciduria"},"content":{"rendered":"
<\/div>\n

L-2-hydroxyglutaric aciduria (L-2-HGA) is a rare inherited metabolic disorder characterized by abnormal amino acid metabolism, in particular, accumulation of L-2-hydroxyglutaric acid in the body. The disease is caused by a deficiency of a specific enzyme involved in the glutamate metabolism cycle, which leads to excess of this acid in the serum and urine. Clinical manifestations can vary from mild symptoms to severe neurological impairment, including psychomotor retardation, seizures, and ataxia. The condition is often diagnosed in childhood, but sometimes manifests itself later.<\/p>\n

\n
\n

Content<\/p>\nToggle<\/span><\/path><\/svg><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n