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Neuropathology of 3-Hydroxyisobutyric Aciduria, an Autopsy Case Report

Published online by Cambridge University Press:  02 December 2014

Xianyuan Song ,
Virginia Anderson ,
Miguel Guzman  and
Chandrakant Rao
Xianyuan Song*
Affiliation:
Department of Pathology, SUNY Downstate Medical Center, Brooklyn, New York, USA
Virginia Anderson
Affiliation:
Department of Pathology, SUNY Downstate Medical Center, Brooklyn, New York, USA
Miguel Guzman
Affiliation:
Department of Pathology, SUNY Downstate Medical Center, Brooklyn, New York, USA
Chandrakant Rao
Affiliation:
Department of Pathology, SUNY Downstate Medical Center, Brooklyn, New York, USA
*
Department of Pathology, SUNY Downstate Medical Center, 450 Clarkson Ave, Box 25, Brooklyn, New York, 11203, USA
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Abstract

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Type
Brief Communications
Information
Canadian Journal of Neurological Sciences , Volume 36 , Issue 4 , July 2009 , pp. 483 - 486
Copyright
Copyright © The Canadian Journal of Neurological 2009

References

1. Loupatty, FJ, van der Steen, A, Ijlst, L, Ruiter, JP, Ofman, R, Baumgartner, MR, et al. Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria. Mol Genet Metab. 2006;87(3):243–8.Google Scholar
2. Sasaki, M, Iwata, H, Sugai, K, Fukumizu, M, Kimura, M, Yamaguchi, S. A severely brain-damaged case of 3-hydroxyisobutyric aciduria. Brain Dev. 2001;23(4):243–5.Google Scholar
3. Shield, JP, Gough, R, Allen, J, Newbury-Ecob, R. 3-Hydroxyisobutyric aciduria: phenotypic heterogeneity within a single family. Clin Dysmorphol. 2001;10(3):189–91.Google Scholar
4. Sasaki, M, Kimura, M, Sugai, K, Hashimoto, T, Yamaguchi, S. 3-Hydroxyisobutyric aciduria in two brothers. Pediatr Neurol. 1998;18(3):253–5.Google Scholar
5. Boulat, O, Benador, N, Girardin, E, Bachmann, C. 3-hydroxyisobutyric aciduria with a mild clinical course. J Inherit Metab Dis. 1995;18(2):204–6.Google Scholar
6. Chitayat, D, Meagher-Villemure, K, Mamer, OA, O’Gorman, A, Hoar, DI, Silver, K, et al. Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria. J Pediatr. 1992;121(1):86–9.Google Scholar
7. Ko, FJ, Nyhan, WL, Wolff, J, Barshop, B, Sweetman, L. 3-Hydroxyisobutyric aciduria: an inborn error of valine metabolism. Pediatr Res. 1991;30(4):322–6.Google Scholar
8. Sasaki, M, Yamada, N, Fukumizu, M, Sugai, K. Basal ganglia lesions in a patient with 3-hydroxyisobutyric aciduria. Brain Dev. 2006;28(9):600–3.Google Scholar
9. Agamanolis, DP. Disorders of amino acid metabolism. In: Golden, JA, Harding, BN. Pathology and genetics: developmental neuropathology. Basel: ISN Neuropath Press; 2004. p. 303–10.Google Scholar
10. Schönberger, S, Schweiger, B, Schwahn, B, Schwarz, M, Wendel, U. Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease. Mol Genet Metab. 2004;82 (1):69–75.Google Scholar
11. Swaiman, KF. Aminoacidopathies and organic acidemias resulting from deficiency of enzyme activity and transport abnormalities. In: Swaiman, KF, Ashwal, S, editors. Pediatric neurology, principles and practice. 3rd ed. St. Louis: Mosby; 1999. p. 377–410.Google Scholar
12. Menkes, JH. Metabolic diseases of the nervous system. In: Menkes, JH, Harvey, BS, editors. Child neurology. 6th ed. Philadelphia: Lippincott Williams & Wilkins; 2000. p. 33–56.Google Scholar
13. Viegas, CM, da Costa Ferreira, G, Schuck, PF, Tonin, AM, Zanatta, A, de Souza Wyse, AT, et al. Evidence that 3-hydroxyisobutyric acid inhibits key enzymes of energy metabolism in cerebral cortex of young rats. Int J Dev Neurosci. 2008;26(3-4):293–9.Google Scholar
14. Funk, CBR, Prasad, AN, Frosk, P, Sauer, S, Kolker, S, Greenberg, CR, et al. Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort. Brain. 2005;128(4):711–22.Google Scholar
15. Hayashi, M, Sakamoto, K, Kurata, K, Nagata, J, Satoh, J, Morimatsu, Y. Septo-optic dysplasia with cerebellar hypoplasia in Cornelia de Lange syndrome. Acta Neuropathol. 1996;92(6):625–30.Google Scholar
16. Deardorff, MA, Kaur, M, Yaeger, D, Rampuria, A, Korolev, S, Pie, J, et al. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet. 2007;80 (3):485–94.Google Scholar