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Trimethylaminuria

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Laboratory Guide to the Methods in Biochemical Genetics

Abstract

Trimethylaminuria or fish odour syndrome (OMIM 602079) is characterised clinically by an offensive fish-like smell or better malodour often in childhood. The severity of the syndrome is highly variable. A dietary therapy strategy is known. The fish odour syndrome is caused by defects in the FMO3 gene that encodes a flavin containing mono-oxygenase in liver. In the deficiency state one of the enzyme’s substrates trimethylamine (= TMA) will not be adequately converted to TMA N-oxide. The TMA has a pungent odour of rotting fish thus causing the problems. To diagnose a patient with this defect analytical techniques are available that quantify TMA and its N-oxide. These are proton NMR spectroscopy, head space gas chromatography or head space mass spectrometry. In some patients a loading test is required to find indications for this diagnosis at the metabolite level. This chapter describes the available techniques as well as the various forms of the loading test that have been used in literature.

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Author information

Authors and Affiliations

  1. Laboratory of Pediatrics and Neurology, Institute of Neurology, University Medical Centre Nijmegen, Reinier Postlaan 4, 6525GC, Nijmegen, Netherlands

    Ron A. Wevers & Udo F.H. Engelke

Authors
  1. Ron A. Wevers
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  2. Udo F.H. Engelke
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Editor information

Editors and Affiliations

  1. Division of Clinical Chemistry and Biochemistry, University Children’s Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland

    Nenad Blau

  2. Academic Medical Centre, Lab. Genetic Metabolic; Diseases Fo-224, University Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, Netherlands

    Marinius Duran

  3. Dept. of Molecular and Medical Genetics, Oregon Health & Science University, 3rd Avenue 2525, 97201, Portland, USA

    K. Michael Gibson

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© 2008 Springer-Verlag Berlin Heidelberg

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Wevers, R., Engelke, U. (2008). Trimethylaminuria. In: Blau, N., Duran, M., Gibson, K. (eds) Laboratory Guide to the Methods in Biochemical Genetics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-76698-8_34

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  • DOI: https://doi.org/10.1007/978-3-540-76698-8_34

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-76697-1

  • Online ISBN: 978-3-540-76698-8

  • eBook Packages: MedicineMedicine (R0)

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