Skip to main content

Table 1 Individual characteristics of the GALT genotype in 13 Korean patients with decreased GALT enzyme activity

From: Novel GALTvariations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity

Case no. Age (month) Sex Location Nucleotide change* Amino acid change GALT activity(μmol/h/g Hb) Category
1 24.5 M Exon 3 c.286_299delGACAACGACTTCCC p.Asp96Serfs*5 < 0.1 G/G
    IVS 4 c.378-1G > C p.?   
2 1.8 F Exon 3 c.286_299delGACAACGACTTCCC p.Asp96Serfs*5 7.3 G/G
    IVS 8 c.821-7A > G Exon 9 deletion   
3 2.3 F Exon 5 c.493 T > C p.Tyr165His 6.3 G/G
    Exon 10 c.998G > A p.Arg333Gln   
4 1.7 M Exon 10 c.998G > A p.Arg333Gln 1.8 G/G
    Exon 10 c.998G > A p.Arg333Gln   
5 1.1 F Exon 3 c.302C > A p.Ala101Asp 6.2 G/D
    Exon 10 c.940A > G p.Asn314Asp§   
6 2.9 M Exon 9 c.826_827delinsAA p.Ala276Asn 5.9 G/D
    Exon 10 c.940A > G p.Asn314Asp§   
7 3.1 M Exon 4 c.346C > A p.Leu116Ile 15.6 G/N
8 2.2 F Exon 7 c.602G > A p.Arg201His 14.5 G/N
9 3.1 M Exon 8 c.769C > A p.Pro257Thr 11.6 G/N
10 2.9 F Exon 11 c.1087G > A p.Glu363Lys 16.4 G/N
11 3.0 F Exon 10 c.940A > G p.Asn314Asp§ 12.5 D/D
12 3.5 F Exon 10 c.940A > G p.Asn314Asp§ 12.6 D/N
13 5.2 M Exon 10 c.940A > G p.Asn314Asp§ 16.1 D/N
  1. GALT galactose-1-phosphate uridyltransferase.
  2. *Nucleotide numbering was based on the GALT cDNA sequence (RefSeq NM_000155.2) with nucleotide +1 being the A of the first ATG translation initiation codon.
  3. The reference range of GALT enzyme activity was 20–35 μmol/h/g Hb for normal healthy individuals and the limit of quantitation was 0.1 μmol/h/g Hb.
  4. D, Duarte variant; G, allele for galactosemia including novel likely pathogenic variant; N, normal allele.
  5. §Duarte variant.