TY - JOUR AU - Bouchemal, Nadia AU - Ouss, Lisa AU - Brassier, Anaïs AU - Barbier, Valérie AU - Gobin, Stéphanie AU - Hubert, Laurence AU - de Lonlay, Pascale AU - Le Moyec, Laurence PY - 2019 DA - 2019/09/18 TI - Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: 1H NMR spectroscopy and genetic testing JO - Orphanet Journal of Rare Diseases SP - 222 VL - 14 IS - 1 AB - 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 nuclear magnetic resonance spectroscopy to assess TMAU in 13 patients. We also sequenced the FMO3 gene in 11 of these patients. Treatment with vitamin B2 was prescribed. SN - 1750-1172 UR - https://doi.org/10.1186/s13023-019-1174-6 DO - 10.1186/s13023-019-1174-6 ID - Bouchemal2019 ER -