Table 1 Clinical and molecular characteristics of patients and family members with MAT I/III deficiency.
Diagnosis | Latest evaluation | ||||||||
|---|---|---|---|---|---|---|---|---|---|
Subject | Family Member | Gender | Age | Met (< 50 µmol) | Hcy (<15 µmol) | Age | Met (< 50 µmol) | Hcy (<15 µmol) | MAT1A mutation |
1 | F | 1 months | 146,1 | 17.2 | 7 months | 149 | 9.9 | c.791G>A (p.Arg264His) | |
1-1 | Father | M | 34 years | NA | NA | NA | NA | c.791G>A (p.Arg264His) | |
2 | F | 3 months | 172.4 | 10 | 1 month | 126 | NA | c.791G>A (p.Arg264His) | |
3 | M | 3 months | 207 | 13.3 | 4 months | 111 | 11.8 | c.791G>A (p.Arg264His) | |
4 | F | 1 month | 180 | 12.5 | 13 months | 316 | 9.2 | c.791G>A (p.Arg264His) | |
5 | F | 1 month | 184 | 21.7 | 13 months | 341 | 11 | c.791G>A (p.Arg264His) | |
6 | F | 1 month | 135.5 | 6.5 | 12 months | 49 | 5 | c.746G>A (p.Arg249Gln) | |
7 | M | 1 month | 115 | 7.6 | 15 months | 46 | NA | c.746G>A (p.Arg249Gln) | |
8 | F | 2 months | 62 | 6.6 | 14 months | 20 | NA | c.746G>A (p.Arg249Gln) | |
8-1 | Father | M | 32 years | 66 | NA | NA | NA | c.746G>A (p.Arg249Gln) | |
9 | F | 1 month | 173 | 14.22 | 18 months | 70 | NA | c.746G>A (p.Arg249Gln) | |
9-1 | Father | M | 38 years | 116 | NA | NA | NA | c.746G>A (p.Arg249Gln) | |
10 | F | 1 month | 82.1 | 13.2 | 16 months | 35 | NA | c.838G>A (p.Gly280Arg) | |
11 | F | 15 d | 902 | 23.1 | 1 month | 930 | 23.6 | c.[274T>C];[895C>T], p.[Tyr92His];[Arg299Cys] | |
12 | M | 1 month | 205.22 | 10 | 2 years | 1869 | NA | c.[274T>C];[895C>T], p.[Tyr92His];[Arg299Cys] | |
13 | M | 1 month | 748.1 | 24.4 | 72 months | 218 | 10.4 | c.[291G>C];[595C>T], p.[Lys97Ala];[Arg199Cys] | |
14 | F | 20 d | 1352.6 | 21.1 | 58 months | 815.2 | 19.06 | c.[895C>T];[1005C>G], p.(Arg299Cys];[Tyr335*] | |
14-1 | Sister | F | 1 month | 891 | NA | 35 months | 942.5 | 17.6 | c.[895C>T];[1005C>G], p.(Arg299Cys];[Tyr335*] |
15 | F | 5 month | 300.2 | 14.4 | 25 months | 87.7 | 5.4 | c.[487C>T];[487C>T], p.(Arg163Trp];[Arg163Trp) | |