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Presentation data, GALT activity and mutation type of patients with galactosemia |
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| Patient |
Year of diagnosis |
Age at Dx (months) |
Race |
GALT activity* |
Mutation |
|
|
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| 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 |
|
* Normal range of GALT activity: 12.5 to 65.0 U/gm of Hb (1 U = 1 μmol UDPG/hr) ** Clinical data unavailable B = Black (Negroid), M = Mixed ancestry, W = European ancestry | |||||
Henderson et al. BMC Pediatrics 2002 2:7 doi:10.1186/1471-2431-2-7 |
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