Table 1.

Characteristics and individual GLA mutations at baseline for the 15 patients enrolled in the study

Patient number (random)	GLA gene mutation	Associated phenotype, as reported in the literature	Reference	Age categorya	Duration of Fabry disease (years)b	Leukocyte α-Gal A activity (U/mg)/plasma α-Gal A activity (U/mL)
1	358Edel	Classic	Blanch et al. (1996)	B	11.5	0.9/1.0
2	c.256delT	Classic	Topaloglu et al. (1999)	C	14.1	NA/1.0
3	c.717_718delAA	Classic	Blanch et al. (1996)	E	NA	0.1/0.0
4	R220X	Classic	Meaney et al. (1994)	C	10.0	1.4c/NA
5	D322E	Classic	Lee et al. (2010)	E	2.7	NA/NA
6	NA	–	–	D	18.8	3.5c/NA
7	R227Q	Classic	Eng et al. (1993)	C	11.6	6.8c/0.1
8	C56X	Classic	Shabbeer et al. (2006)	A	8.1	NA/NA
9	g.IVS4+919G>A	Late onset	Chien et al. (2013) and Eng et al. (1994)	A	5.9	5.1c/NA
10	R112C	Classic	Shabbeer et al. (2006)	C	3.1	0.4/0.2
11	C202Y	Classic	Eng et al. (1997)	E	1.9	NA/0.1
12	R227Q	Classic	Eng et al. (1993)	D	8.6	0.1/0.1
13	R112H	Late onset	Chien et al. (2013) and Eng et al. (1994)	B	10.7	1.7c/0.1
14	R227Q	Classic	Eng et al. (1993)	B	8.3	0.1/0.1
15	R301X	Classic	Eng et al. (1994)	F	13.2	ND/0.4
Mean (SD)				28.5 (16.1)	9.2 (4.7)d
Median (range)				24.0 (5–61)	9.3 (1.9–18.8)

α-Gal A α-galactosidase A, NA not available, ND not detectable, SD standard deviation

^aAge was calculated from the date of birth to the date of the first study infusion of agalsidase beta. To protect patients’ data privacy, age categories are used: A, >0 to ≤10 years; B, >10 to ≤20 years; C, >20 to ≤30 years; D, >30 to ≤40 years; E, >40 to ≤50 years; F, >50 years

^bDuration of Fabry disease was calculated from the date of initial diagnosis of Fabry disease to the date of the first study infusion

^cIn nmol/h/mg protein

^d n = 14; the date of diagnosis was not available for one patient