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Table 1 Patients’ characteristics

From: The natural history of classic galactosemia: lessons from the GalNet registry

 

n

Valid n

%

Gender

 

509

 

 Male

245

 

48.1

 Female

264

 

51.9

Age (years)

 

509

 

 < 18 years

233

 

45.8

 ≥ 18 years

276

 

54.2

Ethnicity

 

466

 

 Caucasian

436

 

93.6

 Othera

30

 

6.4

GALT gene mutationb

 

404

 

c.[563A>G];[563A>G] (p.[(Gln188Arg)];[(Gln188Arg)])

233

 

57.7

c.[563A>G];[855G>T] (p.[(Gln188Arg)];[(Lys285Asn)])

29

 

7.2

c.[563A>G];[584T>C] (p.[(Gln188Arg)];[(Leu195Pro)])

10

 

2.5

c.[563A>G];[5.2 kb del]

5

 

1.2

c.[855G>T];[855G>T] (p.[(Lys285Asn)];[(Lys285Asn)])

7

 

1.7

c.[855G>T];[584T>C] (p.[(Lys285Asn)];[(Leu195Pro)])

2

 

0.5

c.[584T>C];[584T>C] (p.[(Leu195Pro)];[(Leu195Pro)])

3

 

0.7

c.[5.2 kb del];[5.2 kb del]

3

 

0.7

Other

112

 

27.7

Enzyme activity

 

255

 

 ≤ 1%

211

 

82.7

 > 1 ≤ 5%

36

 

14.1

 > 5 ≤ 10%

8

 

3.1

Diagnosed following NBS

215

468

45.9

  1. Median age 18 years, range 0–67 years
  2. aBlack, Mixed, Asian, North African
  3. bFor simplicity reasons, the mutation NM_000155.2(GALT):c.[−1039_753del;820 + 50_*789delinsGAATAGACCCCA] is here mentioned as 5.2 kb del
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172