May. 19, 2023
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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;37:243-52. Creative Commons Attribution 4.0 License, https://creativecommons.org/licenses/by/4.0. Figure modified by Dr. Douglas J Lanska.)