L-2-Hydroxyglutaric aciduria: Identification of ten novel mutations in the L2HGDH gene

J. O. Sass, F. Jobard, M. Topçu, A. Mahfoud, E. Werlé, S. Cure, N. Al-Sannaa, S. A. Alshahwan, M. Bataillard, L. Cimbalistiene, C. Grolik, V. Kemmerich, H. Omran, L. Sztriha, M. Tabache, J. Fischer

Research output: Contribution to journalArticle

12 Citations (Scopus)


L-2-hydroxyglutaric aciduria (L-2-HGA) is a metabolic disease with an autosomal recessive mode of inheritance. It was first reported in 1980. Patients with this disease have mutations in both alleles of the L2HDGH gene. The clinical presentation of individuals with L-2-HGA is somewhat variable, but affected individuals typically suffer from progressive neurodegeneration. Analysis of urinary organic acids reveals an increased signal of 2-hydroxyglutaric acid, mainly as the L-enantiomer. L-2-HGA is known to occur in individuals of various ethnic backgrounds, but up to now mutation analysis has been mainly focused on patients of Turkish and Portuguese origin. This led us to confirm the diagnosis on the DNA level and undertake the corresponding mutation analysis in individuals of diverse ethnicity previously diagnosed with L-2-HGA on the basis of urinary metabolites and

Original languageEnglish
Pages (from-to)S275-S279
JournalJournal of inherited metabolic disease
Issue numberSUPPL. 2
Publication statusPublished - Dec 2008


ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Sass, J. O., Jobard, F., Topçu, M., Mahfoud, A., Werlé, E., Cure, S., Al-Sannaa, N., Alshahwan, S. A., Bataillard, M., Cimbalistiene, L., Grolik, C., Kemmerich, V., Omran, H., Sztriha, L., Tabache, M., & Fischer, J. (2008). L-2-Hydroxyglutaric aciduria: Identification of ten novel mutations in the L2HGDH gene. Journal of inherited metabolic disease, 31(SUPPL. 2), S275-S279. https://doi.org/10.1007/s10545-008-0855-4