Skip to main content

Advertisement

Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

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