Table 2 Presentation data, GALT activity and mutation type of patients with galactosemia
Patient | Year of diagnosis | Age at Dx (months) | Race | GALT activity* | Mutation |
|---|---|---|---|---|---|
1 | 1980 | 0.1 | W | 3.0 | Q188R / Q188R |
2 | 1983 | 0.1 | W | 1.6 | Q188R / Q188R |
3 | 1984 | - | ? | 2.4 | nd |
4 | 1984 | 6.5 | B | 0.2 | nd |
5 | 1985 | 4 | B | 4.2 | S135L / S135L |
6 | 1985 | 14.5 | B | 2.4 | nd |
7 | 1985 | - | B | 2.7 | nd |
8 | 1986 | 2.5 | M | 3.5 | nd |
9 | 1987 | 7 | B | 0.0 | nd |
10 | 1990 | 2 | B | 1.2 | S135L / S135L |
11 | 1991 | 0.3 | M | 0.0 | Q188R / ? |
12 | 1991 | 4 | M | 1.4 | nd |
13 | 1995 | - | M | 3.8 | S135L / S135L |
14 | 1996 | 16 | B | 0.8 | S135L / S135L |
15** | 1996 | - | B | 3.5 | S135L / S135L |
16 | 1998 | 6 | B | 2.9 | S135L / S135L |
17 | 2001 | 2 | M | 2.2 | S135L / S135L |
18 | 2001 | 7 | W | 2.2 | Q188R / Q188R |