Gastrointestinal Symptoms of Patients with Fabry Disease

Table 1

Phenotype, genotype, enzyme activity, and clinical details of 50 patients with Fabry disease.

Patient	Age	Sex	Plasmatic enzyme activity (nmol/mL/h) (in males)	Genotype	Phenotype	GI symptoms
1	51	M	0,3	A288D	Classic	Yes
2	47	F		c.846_847 delTC	Classic	Yes
3	59	F		c.846_847 delTC	Classic	Yes
4	25	F		c.846_847 delTC	Classic	Yes
5	21	F		c.846_847 delTC	Classic	Yes
6	37	M	0,48	c.846_847 delTC	Classic	Yes
7	27	F		C172Y	Classic	Yes
8	31	M	3,7	C172Y	Classic	Yes
9	34	M	2,8	C172Y	Classic	Yes
10	28	M	3,4	C172Y	Classic	Yes
11	4	M	2,6	C172Y	Classic	No
12	60	F		C172Y	Classic	Yes
13	39	M	5,3	C172Y	Classic	Yes
14	47	M	0,9	D165H	Classic	Yes
15	14	F		D165H	Classic	No
16	22	M	0,4	Del 2b (#124-125)	Classic	No
17	39	M	1,77	E59K	Classic	No
18	12	F		E59K	Classic	No
19	16	F		G395A	Classic	No
20	14	F		G395A	Classic	No
21	45	M	1,5	G395A	Classic	Yes
22	8	F		G395A	Classic	Yes
23	16	F		IVS 4-1 (g->a)	Classic	Yes
24	40	M	0,8	IVS 4-1 (g->a)	Classic	Yes
25	10	M	0,7	IVS 4-1 (g->a)	Classic	Yes
26	18	F		IVS 4-1 (g->a)	Classic	Yes
27	42	M	0,7	IVS 4-1 (g->a)	Classic	No
28	19	F		M 51 I	Late onset	No
29	25	M	0,78	M 51 I	Late onset	No
30	53	F		M 51 I	Late onset	No
31	50	F		M 51 I	Late onset	No
32	28	F		M42V	Classic	Yes
33	20	F		M 51 I	Late onset	Yes
34	37	F		N215S	Mild, cardiac variant	Yes
35	10	F		N215S	Mild, cardiac variant	No
36	37	F		P409S	Classic	No
37	40	M	0,9	P409S	Classic	Yes
38	12	M	1,1	P409S	Classic	Yes
39	34	F		R112H	Late onset	Yes
40	9	M	0,8	R112H	Late onset	No
41	14	F		R112H	Late onset	Yes
42	30	M	0,1	R342Q	Classic	Yes
43	69	F		S78X	Classic	Yes
44	70	F		S78X	Classic	No
45	26	F		S78X	Classic	Yes
46	12	F		S78X	Classic	Yes
47	51	F		S78X	Classic	No
48	46	M	2,9	W162X	Classic	Yes
49	48	M	3,1	W162X	Classic	Yes
50	8	M	2,3	W162X	Classic	Yes