Pediatric Neurology
Volume 27, Issue 2 , Pages 141-144 , August 2002

l-2-hydroxyglutaric aciduria in two siblings

  • László Sztriha, MD, PhD

      Affiliations

    • Department of Pediatrics, Faculty of Medicine and Health Sciences; United Arab Emirates University; Al Ain, United Arab Emirates
    • Corresponding Author InformationCommunications should be addressed to: Dr. Sztriha; Department of Pediatrics; Faculty of Medicine and Health Sciences; United Arab Emirates University; Al Ain; P.O. Box 17666; United Arab Emirates.
    • ,
  • Aithala Gururaj, MD

      Affiliations

    • Department of Pediatrics, Faculty of Medicine and Health Sciences; United Arab Emirates University; Al Ain, United Arab Emirates
    • ,
  • Peter Vreken, PhD

      Affiliations

    • Department of Clinical Chemistry; Academic Medical Center; University of Amsterdam; Amsterdam, The Netherlands
    • Peter Vreken is deceased.
    • ,
  • Michael Nork, MD

      Affiliations

    • Department of Radiology; Tawam Hospital; Al Ain, United Arab Emirates
    • ,
  • Gilles G Lestringant, MD

      Affiliations

    • Department of Internal Medicine; Tawam Hospital; Al Ain, United Arab Emirates

Received 23 October 2001 ,Accepted 25 February 2002.

References 

  1. Duran M, Kamerling JP, Bakker HD, van Gennip AH, Wadman SK. L-2-Hydroxyglutaric aciduria (An inborn error of metabolism?). J Inher Metab Dis. 1980;3:109–112
  2. Barth PG, Hoffmann GF, Jaeken J, et al.  L-2-Hydroxyglutaric acidemia (A novel inherited neurometabolic disease). Ann Neurol. 1992;32:66–71
  3. Topçu M, Erdem G, Saatçi I, et al.  Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia (Report of three cases in comparison with Canavan disease). J Child Neurol. 1996;11:373–377
  4. de Klerk JBC, Huijmans JGM, Stroink H, Robben SGF, Jakobs C, Duran M. L-2-Hydroxyglutaric aciduria (Clinical heterogeneity versus biochemical homogeneity in a sibship). Neuropediatrics. 1997;28:314–317
  5. D’Incerti L, Farina L, Moroni I, Uziel G, Savoiardo M. L-2-Hydroxyglutaric aciduria (MRI in seven cases). Neuroradiology. 1998;40:727–733
  6. Fujitake J, Ishikawa Y, Fujii H, et al.  L-2-Hydroxyglutaric aciduria (Two Japanese adult cases in one family). J Neurol. 1999;246:378–382
  7. Barth PG, Hoffmann GF, Jaeken J, et al.  L-2-Hydroxyglutaric acidemia (Clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase). J Inher Metab Dis. 1993;16:753–761
  8. Diogo L, Fineza I, Canha J, Borges L, Cardosos ML, Vilarinho L. Macrocephaly as the presenting feature of L-2-hydroxyglutaric aciduria in a 5-month-old boy. J Inher Metab Dis. 1996;19:369–370
  9. Moroni I, D’Incerti L, Farina L, Rimoldi M, Uziel G. Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria. Neurol Sci. 2000;21:103–108
  10. Gibson KM, ten Brink HJ, Schor DSM, et al.  Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid (Application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias). Pediatr Res. 1993;34:277–280
  11. Lyon G, Adams RD, Kolodny EH. Early infantile progressive metabolic encephalopathies (Clinical problems and diagnostic considerations). In:  Lyon G,  Adams RD,  Kolodny EH editor. Neurology of hereditary metabolic diseases of children. 2nd ed.. New York: McGraw-Hill; 1996;p. 45–143
  12. Larnaout A, Hentati F, Belal S, Hamida CB, Kaabachi N, Hamida MB. Clinical and pathological study of three Tunisian siblings with L-2-hydroxyglutaric aciduria. Acta Neuropathol. 1994;88:367–370
  13. Hanefeld F, Kruse B, Bruhn H, Frahm J. In vivo proton magnetic resonance spectroscopy of the brain in a patient with L-2-hydroxyglutaric academia. Pediatr Res. 1994;35:614–616
  14. Hoffmann GF, Jakobs C, Holmes B, et al.  Organic acids in cerebrospinal fluid and plasma of patients with L-2-hydroxyglutaric aciduria. J Inher Metab Dis. 1995;18:189–193
  15. Wanders RJA, Vilarinho L, Hartung HP, et al.  L-2-Hydroxyglutaric aciduria (Normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients). J Inher Metab Dis. 1997;20:725–726

PII: S0887-8994(02)00405-8

Pediatric Neurology
Volume 27, Issue 2 , Pages 141-144 , August 2002

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