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Table 1 Biochemical and genetic characteristics of the study population, including NMR ratios, the total number of abnormal NMR ratios (out of the four), and the number of abnormal NMR ratios after excluding the TMAO/Cr ratio (highly dependent on the diet factors)

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

Subjects Mutations Amino acid changes TMA/TMAO N < 0.1 TMAO/TMA + TMAO N > 0.8 TMAO/Cr (mmol/mol) N 50–1000 TMA/Cr (mmol/mol) N < 10 Number of out-of-range NMR ratios (out of 4) Number of out-of-range NMR ratios (out of 3, excluding TMAO/Cr)
Patient #1 (adult) heterozygous
c.472G > A
heterozygous p.Glu158Lys 0.13 0.88 11.16 1.46 2 1
Patient #2 (adult) homozygous
c.472G > A
homozygous p.Glu158Lys ND ND ND ND ND ND
Patient #3 (adult) heterozygous
c.472G > A
heterozygous
c.923A > G
heterozygous p.Glu158Lys
heterozygous p.Glu308Gly
0.04 0.96 39.66 1.60 1 0
Patient #4 (adult) ND ND 0.37 0.73 7.00 2.56 3 2
Patient #5 (adult) heterozygous
c.472G > A
heterozygous
c.923A > G
heterozygous p.Glu158Lys
heterozygous p.Glu308Gly
0.03 0.97 49.57 1.63 1 0
Patient #6 (adult) homozygous
c.472G > A
homozygous p.Glu158Lys 0.05 0.95 70.89 3.65 0 0
Patient #7 (adult) no mutation no mutation 0.15 0.87 119.27 17.84 2 2
Patient #8 (adult) ND ND ND ND ND ND ND ND
Patient #9 (adult) homozygous
c.472G > A
homozygous p.Glu158Lys 0.04 0.96 51.61 2.01 0 0
Patient #10 (adult) no mutation no mutation 0.10 0.91 32.13 3.11 1 0
Patient #11 (adult) heterozygous
c.472G > A
heterozygous p.Glu158Lys 0.08 0.93 3.94 0.30 1 0
Patient #12 (child) heterozygous
c.458C > T
heterozygous
c.419 T > C
heterozygous p.Pro153Leu heterozygous p.Phe140Ser 1.14 0.41 86.00 123.00 3 3
Patient # 13 (child) heterozygous
c.458C > T
heterozygous
c.769G > A
heterozygous p.Pro153Leu
heterozygous p.Val257Met
1.15 0.54 25.50 29.30 4 3
  1. N correspond to normal
  2. ND not determined