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L-2 hydroxyglutaric aciduria: report of a Mexican-Mayan patient with the mutation c.569C>T and response to vitamin supplements and levocarnitine Cover

L-2 hydroxyglutaric aciduria: report of a Mexican-Mayan patient with the mutation c.569C>T and response to vitamin supplements and levocarnitine

Open Access
|Mar 2024

References

  1. Ahmed S, Siddiqui A, DeBerardinis RJ, Ni M, Lai W, Cai F, et al. L-2-hydroxyglutaric aciduria –review of the literature and case series. Annals of Medicine and surgery. 2023; 85: 712717. DOI: 10.1097/MS9.0000000000000326
  2. Shah H, Chandarana M, Sheth J, Shah S. A case report of chronic progressive pancerebellar syndrome with leukoencephalopathy: L-2 hydroxyglutaric aciduria. Movement Disorders Clinical Practice. 2020; 7(5): 560563. DOI: 10.1002/mdc3.12967
  3. Kranendijk M, Struys E, Salomons G, et al. Progress in understanding 2-hydroxyglutaric acidurias. J Inherit Metab Dis. 2012; 35: 57187. DOI: 10.1007/s10545-012-9462-5
  4. Muthusamy K, Sudhakar S, Christudass C, et al. Clinicoradiological spectrum of L-2-hydroxy glutaric aciduria: typical and atypical findings in an Indian Cohort. J Clin Imaging Sci. 2019; 9: 3. DOI: 10.25259/JCIS-9-3
  5. Topçu M, Aydin OF, Yalçinkaya C, Haliloğlu G, Aysun S, Anlar B, et al. L-2-hydroxyglutaric aciduria: a report of 29 patients. Turk J Pediatr. 2005; 47: 17.
  6. Duran M, Kamerling JP, Bakker HD, van Gennip AH, Wadman SK. L-2-Hydroxyglutaric aciduria: an inborn error of metabolism? J Inherit Metab Dis. 1980; 3(4): 10912. DOI: 10.1007/BF02312543
  7. Bozaci AE, Er E, Ünal AT, Tas I, Ayaz E, Ozbek MN, et al. Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey. Molecular Genetics and Metabolism Reports. 36(2023). DOI: 10.1016/j.ymgmr.2023.100979
  8. Steenweg ME, Samomons GS, Yapici Z, Uziel G, Scalais E, Zafeiriou DI, et al. L-2 hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients. Radiology: Volume 251: Number 3—June 2009. DOI: 10.1148/radiol.2513080647
  9. Mahfoud A, Domínguez CL, Rashed M, Duran M, Rodríguez T, Rodríguez D, et al. Aciduria D-2 hidroxiglutárica. Reporte de dos casos. Invest Clin. 50(3): 369375, 2009.
  10. Muntau AC, Roschinger W, Merkenschlager A, van der Knaap M, Jakobs C, Duran M, et al. Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria? Neuropediatrics. 2000; 31: 137140. DOI: 10.1055/s-2000-7497
  11. Nota B, Struys EA, Pop A, Jansen EE, Fernandez-Ojeda MR, Kanhai WA, et al. Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria. The American Journal of Human Genetics. 92: 627631, April 4, 2013. DOI: 10.1016/j.ajhg.2013.03.009
  12. Patay Z, Mills JC, Löbel U, Lambert A, Sablauer A, Ellison DW. Cerebral Neoplasms in L-2 Hydroxyglutaric Aciduria: 3 New Cases and Meta-Analysis of Literature Data. AJNR Am J Neuroradiol. 33: 94043 May 2012. DOI: 10.3174/ajnr.A2869
  13. Topcu M, Jobard F, Halliez S, Coskun T, Yalcinkayal C, Gerceker FO, et al. L-2-hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. Hum Mol Genet. 2004; 13(22): 280311. DOI: 10.1093/hmg/ddh300
  14. Jović NJ, Kosać A, Koprivšek K. L-2-Hydroxyglutaric Aciduria: A Case Report. Srp Arh Celok Lek. 2014 May–Jun; 142(5–6): 337341. DOI: 10.2298/SARH1406337J
  15. Muzammal M, Di Cerbo A, Almusalami EM, Farid A, Khan MA, Ghazanfar S, et al. In Silico Analysis of the L-2-Hydroxyglutarate Dehydrogenase Gene Mutations and Their Biological Impact on Disease Etiology. Genes. 2022; 13: 698. DOI: 10.3390/genes13040698
  16. Hu H, Kahrizi K, Musante L, Fattahi Z, Herwig R, Hosseini M, et al. Genetics of intellectual disability in consanguineous families. Mol Psychiatry. 2019 Jul; 24(7): 10271039. Epub 2018 Jan 4. PMID: 29302074. DOI: 10.1038/s41380-017-0012-2
  17. Steenweg M, Jakobs C, Errami A, van Dooren S, Adeva Bartolomé MT, Aerssens P, et al. An Overview of L-2-Hydroxyglutarate Dehydrogenase Gene (L2HGDH) Variants: A Genotype–Phenotype Study. Human Mutation. 31(4): 380390, 2010. DOI: 10.1002/humu.21197
  18. Yilmaz K. Riboflavin treatment in a case with l-2-hydroxyglutaric aciduria. Eur J Paediatr Neurol. 2009; 13: 5760. DOI: 10.1016/j.ejpn.2008.01.003
  19. Samuraki M, Komai K, Hasegawa Y, Kimura M, Yamaguchi S, Terada N, et al. A successfully treated adult patient with L-2-hydroxyglutaric aciduria. Neurology. 2008; 70: 10512. DOI: 10.1212/01.wnl.0000287141.90944.95
  20. Weimar C, Schlamann M, Krägeloh-Mann I, Schöls L. L-2 hydroxyglutaric aciduria as a rare cause of leukencephalopathy in adults. Clin Neurol Neurosurg. 2013; 115: 7656. DOI: 10.1016/j.clineuro.2012.06.040
DOI: https://doi.org/10.5334/tohm.854 | Journal eISSN: 2160-8288
Language: English
Submitted on: Dec 21, 2023
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Accepted on: Feb 23, 2024
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Published on: Mar 7, 2024
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2024 Roberto Leal-Ortega, Luis Enrique Parra-Medina, Lizbeth Josefina González-Herrera, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.