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

Pedigree analysis shows an autosomal recessive mode of disease segregation. The genotype status is represented as -/- (homozygous deletion) or -/G (heterozygous carrier). (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, Figure modified by Dr. Douglas J Lanska.)

Associated Disorders

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