Table 1. Genotypes of SD patients analyzed in this study.

Patient	Origin	Age atonset	Age atobservation	Total Hex activity§(% of normal controls)	Genotype*
SD1	Italy	18 m	10 y+	2.8	[c.626C>T(p.T209I)]+ [c.299+1471_408del2406]
SD2	Italy	4 m	3y9m+	11.5	[c.1303_1304delGT(p.R435fsX20)]+ [c.926G>T(p.C309F)]
SD3	Italy	6 m	2y6m+	2.6	[c.1451G>A(p.G484E)]+[?]
SD4	Italy	6 m	2y3m+	3.1	[c.448A>C(p.T150P)]+ [16Kbdel]
SD5	Argentine	4 m	2y8m+	1.1	[c.445+1G>A (r.0)]+[c.1451G>A(p.G484E)]
SD6	Argentine	4–6 m	2y11m+	1.3	[c.445+1G>A (r.0)]+[c.1597C>T(p.R533C)]
SD7	Argentine	4–6 m	3y4m+	4.2	[c.445+1G>A (r.0)]+[c.1242+1G>A (p.K390_K414delfsX7)]
SD8	Argentine	4–5 m	3y+	ND	[c.445+1G>A (r.0)]+[c.1242+1G>A (p.K390_K414delfsX7)]
SD9	Argentine	4–5 m	3y+	ND	[c.1082+5G>A(p.G301_W361delfsX10)]+ [c.1601G>A(p.C534Y)]
SD10	Brazil	12 m	4y2m	2.8	[c.1169+5G>A(p.E362_K390del)]+ [c.448A>C(p.T150P)]
SD11**	Brazil	8 m	3y9m	8.1	[c.634C>A(p.H212N)]+ [c.634C>A(p.H212N)]
SD12	Turkey	4m	2y +	NA	[c.1597C>T(p.R533C)]+ [c.1597C>T(p.R533C)]
SD13	Bulgaria	9 m	1y3m	1.6	[c.146C>A(p.S49X)]+ [c.146C>A(p.S49X)]
SD14	China	12 m	2y	15	[c.1260_1265delAGTTGA(p.V421_E422del)]+ [c.1260_1265delAGTTGA(p.V421_E422del)]

ND: not detectable; NA: not available. Novel mutations are indicated in bold, *RefSeq cDNA:NM_000521. For cDNA numbering +1 corresponds to the A of the first ATG translation initiation codon. RefSeq protein: NP_000512.1. **indicates parents’ consanguinity. m: month; y: years; +deceased; §Owing to the use of different assay methods and tissue samples, total Hex activity values are expressed as a percentage of average control values.