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

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

Infant numbers	Sex	Ages (Ms) of the test	Ages (Yrs) at last follow up	Nucleotide ^(a)	Protein ^(b)	Exons	Known^Ref./ 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	Male^B	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	Female^T	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	Female^T	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	Female^S	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

^E indicates Brother; ^S indicates Sister; ^T indicates Twin
^(a) Nucleotide variations [allele 1]+[allele 2]
^(b) Protein variations [allele 1]+[allele 2]
^(c) IDUA enzyme activity (Ref. 4.87 ~ 54.70 μmol/g protein/h)
^(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

ISSN: 1750-1172