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 |