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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