Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: 1H NMR spectroscopy and genetic testing

Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: 1H NMR spectroscopy and genetic testing

Abstract Background Trimethylaminuria (TMAU) is a metabolic disorder characterized by the excessive excretion of the malodorous compound trimethylamine (TMA). The diagnosis of TMAU is challenging because this disorder is situated at the boundary between biochemistry and psychiatry. Here, we used nuc...

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Bibliographic Details
Main Authors: Nadia Bouchemal, Lisa Ouss, Anaïs Brassier, Valérie Barbier, Stéphanie Gobin, Laurence Hubert, Pascale de Lonlay, Laurence Le Moyec
Format: Article
Language:English
Published: BMC 2019-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Trimethylaminuria
Olfactory reference syndrome
FMO3 gene
Proton nuclear magnetic resonance spectroscopy
Online Access:http://link.springer.com/article/10.1186/s13023-019-1174-6

Internet

http://link.springer.com/article/10.1186/s13023-019-1174-6

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