Abstract
Sarcosinemia is a rare inborn error of metabolism that is characterised by an increased level of sarcosine (N-methylglycine) in the plasma and urine. The enzymatic block results from a deficiency of sarcosine dehydrogenase (SarDH), a liver mitochondrial matrix enzyme that converts sarcosine into glycine. Although this condition may remain inapparent until later life, it has been reported in rare cases to lead to neurodevelopmental disability. A 19-year-old male with sarcosinemia presented with dystonia, developmental delay and cognitive impairment. Magnetic resonance imaging revealed vermian hypotrophy. A 2-year pharmacological treatment with memantine was negative on the clinical signs. In this case, it was concluded that the metabolic block leading to sarcosinemia was responsible of a pathologic condition with mental deficiency and complex neurological signs. A maternal isodisomy discovered in the vicinity of SarDH gene could contribute to this pathology. Deficit of SarDH may be considered as a differential diagnosis of growth failure during prenatal stages and respiratory failure at birth following a slowly progressive developmental delay.
Competing interests: None declared
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References
Bar-Joseph I, Pras E, Reznik-Wolf H, Marek-Yagel D, Abu-Horvitz A, Dushnitzky M, Goldstein N, Rienstein S, Dekel M, Pode-Shakked B, Zlotnik J, Benarrosh A, Gillery P, Hofliger N, Auray-Blais C, Garnotel R, Anikster Y (2012 Jul 24) Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia. Hum Genet (online first)
Botez-Marquard T, Léveillé J, Botez MI (1994) Neuropsychological functioning in unilateral cerebellar damage. Can J Neurol Sci 21(4):353–357
Christensen E, Brandt NJ, Rosenberg T (1989) Sarcosinaemia in a patient with Usher syndrome. J Inherit Metab Dis 12(4):487–488
Gerritsen T, Waisman HA (1966) Hypersarcosinaemia: an inborn error of metabolism. N Eng J Med 275(2):66–69
Gregory A, Polster BJ, Hayflick SJ (2009) Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet 46(2):73–80
Rees S, Inder T (2005) Fetal and neonatal origins of altered brain development. Early Human Develop 81:753–761
Schmahmann JD, Sherman JC (1998) The cerebellar cognitive affective syndrome. Brain 121(Pt 4):561–579
Smith KE, Borden LA, Hartig PR, Branchek T, Weinshank RL (1992 May) Cloning and expression of a glycine transporter reveal colocalization with NMDA receptors. Neuron 8(5):927–935
van Sprang FJ, Duran M, Scholten HG, Wadman SK (1986) A patient with sarcosinaemia. J Inherit Metab Dis 9(4):404–405
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We are grateful to Doctor Harvey Mudd for the invaluable help and discussion.
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Communicated by: Daniela Karall
Electronic supplementary material The online version of this article (doi:10.1007/8904_2011_96) contains supplementary material, which is available to authorized users.
Appendix Relevant Conflicts of Interest/Financial Disclosures
Appendix Relevant Conflicts of Interest/Financial Disclosures
Nothing to report. SB has been involved as main study coordinator in a clinical trial of memantine in Alzheimer’s disease.
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Benarrosh, A. et al. (2012). A Young Adult with Sarcosinemia. No Benefit from Long Duration Treatment with Memantine. In: Zschocke, J., Gibson, K.M., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports – Case and Research Reports, 2012/6. JIMD Reports, vol 9. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2012_185
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DOI: https://doi.org/10.1007/8904_2012_185
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