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Molecular modeling in a consanguineous Pakistani family with a novel protein-truncating mutation in L2HGDH causing L‐2‐hydroxyglutaric aciduria

Key: (a) Normal L2HGDH protein model; (b) mutant L2HGDH protein model; (c) superimposed structure. Due to misfolding the 3D structures of wild type and mutated L2HGDH failed to overlap when superimposed, confirming that the identified frameshift mutation results in structural distortion of L2HGDH. (Source: Muzammal M, Ali MZ, Brugger B, et al. A novel protein-truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family. Metab Brain Dis 2022;37[1]:243-52. Creative Commons Attribution 4.0 License,

Associated Disorders

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