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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