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Table 2 Presentation data, GALT activity and mutation type of patients with galactosemia

From: The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa

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
  1. * Normal range of GALT activity: 12.5 to 65.0 U/gm of Hb (1 U = 1 ╬╝mol UDPG/hr) ** Clinical data unavailable B = Black (Negroid), M = Mixed ancestry, W = European ancestry