Abstract
Metabolomic profiling is an emerging technology in the clinical setting with immediate diagnostic potential for the population of patients with Inborn Errors of Metabolism. We present the metabolomics profile of two ABAT deficiency patients both pre- and posttreatment with flumazenil. ABAT deficiency, also known as GABA-transaminase deficiency, is caused by recessive mutations in the gene ABAT and leads to encephalopathy of variable severity with hypersomnolence, hypotonia, hypomyelination, and seizures. Through metabolomics screening of multiple patient tissues, we identify 2-pyrrolidinone as a biomarker for GABA that is informative in plasma, urine, and CSF. These data will enable noninvasive diagnostic testing for the population of patients with disorders of GABA metabolism.
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Acknowledgments
Research reported in this publication was supported by National Institute of Neurological Disorders and Stroke of the National Institutes of Health under award number R01NS083726 to PEB. We thank the families for participating in this study.
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Communicated by: Saskia Brigitte Wortmann, M.D., Ph.D.
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MKK conceived the study and treated the patients. PEB conceived and led the study and wrote the manuscript.
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MKK declares no conflict of interest. PEB declares no conflict of interest.
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© 2018 Society for the Study of Inborn Errors of Metabolism (SSIEM)
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Koenig, M.K., Bonnen, P.E. (2018). Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 43. JIMD Reports, vol 43. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2018_94
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DOI: https://doi.org/10.1007/8904_2018_94
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Publisher Name: Springer, Berlin, Heidelberg
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Online ISBN: 978-3-662-58614-3
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