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

Table 4 Metabolite ratios for the pediatric patients (#12 and #13) at different time points (with and without overload and with and without vitamin B2)

Metabolite ratio	Patient #12 Time 0 with dietary overload	Patient #12 3 months without dietary overload without vitamin B2	Patient #12 9 months with vitamin B2	Patient #13 Time 0 without dietary overload without vitamin B2	Patient #13 2 months with vitamin B2	Patient #13 3 months with vitamin B2
TMAO/Cr (mmol/mol)	1702	86	28	25.5	67.3	55.7
TMA/Cr (mmol/mol)	192	123	9	29.3	22.3	29
TMA/TMAO (mol/mol)	0.113	1.14	0.32	1.15	0.33	0.52
TMAO/(TMA + TMAO) (mol/mol)	0.90	0.411	0.76	0.54	0.75	0.66

The normal ranges for healthy controls were TMAO/Cr ranging from 50 to 1000, TMA/Cr < 10, TMA/TMAO < 0.1 (reported by Chalmers et al. [5]) and TMAO/(TMA + TMAO) > 0.8 (reported by Eugène [4])

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