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Table 1 Summary of the biochemical and molecular findings in the MPS I newborn screening test (IDUA gene)

From: Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan

Infant numbers Sex Ages (Ms) of the test Ages (Yrs) at last follow up Nucleotide (a) Protein (b) Exons KnownRef./ Novel IDUA enzyme activity (c) GAG tests (d)
1 Female    [c.2 T > C] + [c.343G > A] [p.M1T] + [p.D115N] 1, 3 K [46]/N 1.20 Negative
2 Female    [c.76G > A] + [c.911delT] [p.A26T] + [V304Gfs*13] 1, 7 N/N 21.60 Negative
3 MaleB 1.1 1.8 [c.300-3C > G] + [1874A > C] [−] + [p.Y625S] 3, 14 K [44]/N 1.60 Positive
4 Male    [c.355G > T] + [c.617C > T] [p,D119Y] + [p.S206 L] 3, 6 K [21]/N 2.06 Negative
5 FemaleT 1.4 0.6 [c.1037 T > G] + [c.1091C > T] [p.L346R] + [p.T364 M] 8, 8 K [44]/K [45] 0.81 Positive
6 FemaleT 1.4 0.6 [c.1037 T > G] + [c.1091C > T] [p.L346R] + [p.T364 M] 8, 8 K [45]/K [45] 0.75 Positive
7 FemaleS 4.5 0.6 [c.300-3C > G] + [1874A > C] [−] + [p.Y625S] 3, 14 K [44]/N 0.46 Positive
8 Male    [c.1081G > A] + [1395delC] [p.A361T] + [−] 8, 9 K [47]/N 1.50 Negative
  1. E indicates Brother; S indicates Sister; T indicates Twin
  2. (a) Nucleotide variations [allele 1]+[allele 2]
  3. (b) Protein variations [allele 1]+[allele 2]
  4. (c) IDUA enzyme activity (Ref. 4.87 ~ 54.70 μmol/g protein/h)
  5. (d) GAG tests including GAG quantification (DMB/Cre ratio), 2-dimensional electrophoresis, and quantitative analyses of GAG-derived disaccharides (DS and HS) by tandem mass spectrometry assay