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Predicted structure of the protein L2HGDH

The predicted structure of the protein L2HGDH in cartoon (a) and surface mode (b). The mutation site 136 of the protein (shown in red spheres) is located in the pocket (shown in a black ellipse) of the FAD/NAD(P)-binding domain (highlighted in orange). (Source: Peng W, Ma XW, Yang X, et al. Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria. BMC Med Genet 2018;19[1]:167. Creative Commons Attribution 4.0 License,

Associated Disorders

  • Ataxia
  • Cardiomyopathy
  • Cerebellar atrophy
  • Dystonia
  • Mental retardation
  • Primary brain tumors
  • Progressive intellectual deterioration
  • Seizures
  • Subcortical leukoencephalopathy