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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