TABLE 2.
Summary information of 31 carriers including Met values from one of parents.
| Carriers/sex | NBS | Allele | From | Follow-up | Met/(Met/Phe) of father or mother | |||
|---|---|---|---|---|---|---|---|---|
| Met (µmol/L) | Met/Phe | tHcy (µmol/L) | Mean (min-max) met (µmol/L) | Min-max met/Phe | ||||
| C1, M | 95 | 1.7 | 10.7 | c.67G>A/p.E23K | maternal | 113.6 (40.5–213) | 1.05–1.56 | 22/0.46 |
| C2, F | 84 | 0.85 | 16.3 | c.179G>A/p.C60Y | maternal | 61.8 (41–82) | 0.83–1.79 | NA |
| C3, F | 98 | 1.69 | 13 | c.179G>A/p.C60Y | NA | 99.3 (89–110) | 1.21–1.74 | NA |
| C4,M | 55.8 | 0.97 | — | c.179G>A/p.C60Y | paternal | 55.4 (49–61) | 1.06–1.69 | NA |
| C5, F | 93 | 1.69 | 8.8 | c.180C>G/p.C60W | paternal | 51.5 (35–73) | 0.72–2.03 | NA |
| C6, F | 55 | 1.11 | 19.6 | c.181A>C/p.K61Q | maternal | 62.2 (41–76.3) | 1.11–1.48 | 27/— |
| C7, F | 76 | 1.52 | 7 | c.251G>C/p.R84T | maternal | 61.7 (38–106) | 1.01–1.96 | 19.32/— |
| C8, F | 63 | 1.23 | 11.4 | c.292 + 5G>A | paternal | 66.5 (35–93) | 0.76–1.74 | 25/— |
| C9, F | 68 | 1.3 | 11 | c.315C>A/p.N105K | paternal | 88.9 (47–137) | 0.75–1.35 | 42/0.54 |
| C10, M | 62 | 1.27 | 10.1 | c.315C>A p.N105K | paternal | 68.7 (24–118) | 0.52–2.05 | 36/0.51 |
| C11, F | 55 | 0.98 | — | c.315C>A p.N105K | maternal | 91.6 (55–115) | 1.25–2.4 | NA |
| C12, F | 84 | 1.62 | 10 | c.748T>C/p.F250L | paternal | 63.5 (31–98) | 0.53–1.76 | 50/0.74 |
| C13, F | 51 | 1.29 | 12.8 | c.855G>C/p.K285N | maternal | 62.0 (51–75) | 1.1–1.65 | 23/0.68 |
| C14, F | 86 | 0.97 | 10.3 | c.188G>T/p.G63V | maternal | 84.0 (61–95) | 0.89–1.45 | 19/0.89 |
| C15, M | 36 | 0.64 | — | c.271G>C/p.G91S | paternal | 46.0 (29–70) | 0.7–1.6 | NA |
| C16, F | 96 | 1.1 | 14.9 | c.773A>G/p.D258G | maternal | 54.7 (34–86) | 0.91–2.0 | 49/0.75 |
| C17, F | 42 | 0.77 | — | c.773A>G/p.D258G | maternal | 54.2 (24–85) | 0.54–1.94 | 20.37/0.33 |
| C18, M | 87 | 1.54 | 10.4 | c.769G>A/p.G257R | NA | 55.3 (34–104) | 0.65–1.80 | NA |
| C19, F | 78 | 1.32 | 17.3 | c.769G>A/p.G257R | paternal | 81.0 (37–127) | 0.65–2.38 | 35.88/0.51 |
| C20, M | 64 | 1.51 | 10.3 | c.769G>A/p.G257R | paternal | 72.3 (49–98) | 0.87–1.45 | 55/0.78 |
| C21, M | 83 | 1.44 | 14.9 | c.769G>A/p.G257R | paternal | 94.1 (62–123) | 1.49–2.85 | 37.36/0.67 |
| C22, F | 82 | 1.48 | 8.7 | c.769G>A/p.G257R | maternal | 97.7 (80–116) | 1.08–2.09 | 37/0.9 |
| C23, M | 75 | 1.78 | 16.9 | c. 964A>G/p.I322V | NA | 142.8 (73–206) | 2.24–3.83 | NA |
| C24, F | 61 | 1.2 | 9.5 | c.1070C>T/p.P357L | maternal | 69.3 (42–88) | 1.24–1.88 | 26/0.51 |
| C25, F | 91 | 1.3 | 12 | c.1070C>T/p.P357L | NA | 73.2 (48–98) | 0.99–2.11 | NA |
| C26, F | 80 | 1.58 | 10.7 | c.1070C>T/p.P357L | maternal | 84.9 (55–115) | 0.87–1.56 | 49/0.76 |
| C27, F | 67 | 1.43 | 11.5 | c.1070C>T/p.P357L | maternal | 102 (43–196) | 0.81–3.08 | 25/0.51 |
| C28, F | 89 | 1.12 | 7.5 | c.1070C>T/p.P357L | paternal | 75.4 (60–88) | 1.15–1.24 | 39.70/0.76 |
| C29, M | 71 | 1.13 | 10 | c.1070C>T/p.P357L | paternal | 94.4 (66–120) | 1.29–2.48 | 30/0.42 |
| C30, F | 68 | 1.14 | 14.6 | c.1070C>T/p.P357L | NA | 178 (85–280) | 1.88–4.75 | NA |
| C31, M | 67 | 0.97 | 10.3 | c.1070C>T/p.P357L | paternal | 61.8 (38–87) | 0.9–1.8 | NA |
NA, not available; F, female; M, male.