Skip to main content

Table 1 Clinical summary of patients with galactosemia and results of GALT enzyme activity assay, and genotyping

From: Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations

 

Age at diagnosis

Age at last evaluation

Hepatomegaly

Jaundice

Vomiting

Failure to thrieve

Cataracts

Hemolytic anemia

Ataxia/Ovarian failure

GALT activity (μmol/h/g Hb)

GALT Genotype

Diagnosis

1

2 m

4y

+

+

+

+

-

+

-

Undetectable

p.Q188R/p.Q188R

Classical galactosemia

2

2 m

10 m

+

+

+

+

-

-

-

5.0

p.Q188R/p.Q188R

Classical galactosemia

3

1 m

12 m

+

+

-

-

-

-

-

3.1

p.Q188R/p.Q188R

Classical galactosemia

4

4 m

5 m

+

+

-

-

-

-

-

1.5

p.Q188R/p.Q188R

Classical galactosemia

5

1 m

2 m

+

+

+

-

+

-

-

14.5

p.Q188R/p.K285N

Classical galactosemia

6

1½ m

5y

+

+

-

+

-

-

-

11.0

IVS3nt + 1G > A/p.Q188R

Classical galactosemia

7

1 m

16 m

+

+

+

+

-

-

-

Undetectable

p.Q169P/p.Q188R

Classical galactosemia

8

NS

2y

-

+

-

+

-

-

-

13.3

IVS4nt + 4A > C/p.Q188R

Classical galactosemia

9

½ m

12 m

+

+

+

+

-

-

-

Undetectable

p.M1T/p.Q188R

Classical galactosemia

10

2 m

4y

+

-

+

+

-

-

-

Undetectable

p.S135L/p.Q188R

Classical galactosemia

11

1 m

3y

+

+

+

-

+

-

-

Undetectable

p.S135L/p.Q188R

Classical galactosemia

12

NS

5 m

-

+

-

+

-

+

-

Undetectable

p.S135L/p.G175D

Classical galactosemia

13

4½ m

4y

+

+

-

-

+

+

-

Undetectable

p.S135L/p.K285N

Classical galactosemia

14

2 m

2 m

+

+

-

+

-

-

-

Undetectable

p.S135L/p.L275fs

Classical galactosemia

15

1 m

3 m

+

-

+

+

-

-

-

Undetectable

p.S135L/p.F171S

Classical galactosemia

16*

2 m

3 m¢

+

+

-

+

+

-

-

1.5

p.M1T/p.S135L

Classical galactosemia

17*

1 m

5y

+

-

-

+

-

+

-

1.0

p.M1T/p.S135L

Classical galactosemia

18

3 m

2y

+

+

+

+

-

-

-

12.0

p.R33H/p.S135L

Classical galactosemia

19

1½ m

3y

+

+

+

+

+

+

-

Undetectable

IVSnt4 + 4A > C/p.R231H

Classical galactosemia

20

NS

10 m

-

-

-

-

-

-

-

3.0

p.P73S/p.N314D§

Duarte galactosemia

21

2 m

3 m

-

+

-

-

-

-

-

10.0

p.G175D/N314D§

Duarte galactosemia

22#

NS

5 m

-

-

-

-

-

-

-

13.0

p.R204X/N314D§

Duarte galactosemia

23#

NS

17 m

-

-

-

-

-

-

-

19.0

p.R204X/N314D§

Duarte galactosemia

24

NS

4 m

-

-

-

-

-

-

-

29.0

p.Q188R/N314D§

Duarte galactosemia

25

NS

2 m

-

-

-

-

-

-

-

29.8

p.N97del/p.N314D§

Duarte galactosemia

26

3 m

4y

+

-

-

-

-

-

-

7.0

p.H132Y/p.T292Tp.H315H

Galactosemia allele carrier

27

NS

3 m

-

-

-

-

-

-

-

13.0

p.I170I/p.Q188R

Galactosemia allele carrier

28

48y

48y

-

-

-

-

-

-

+

21.0

p.R33S/p.S293S

Galactosemia allele carrier

29

2 m

28 m

-

-

-

-

-

-

-

33.0

WT/p.P325L

Galactosemia allele carrier

30@

NS

3 m

-

-

-

-

-

-

-

47.0

WT/WT

Galactosemia type 2

  1. NS = Newborn screening; m = months; y = years; *sip pair, #sib pair, ¢died at 3 month of age
  2. § = Duarte allele: c.-119_-116delCAGT + c.508-24G > A + c507 + 62G > A + N314D
  3. @GALK1 genotype: c.166-5_c.227dup67 and c.766C > T (p.R256W)
  4. New mutations are indicated in bold
Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us