Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A-10T genotype

Table 2 Laboratory FD parameters

Patient #	Normal GLA activity [FI]	GLA mRNA expression [FI]	Lyso-Gb3 [ng/ml]
1*	2.67	0.88	0.68
2	3.09	0.87	1.08
3	0.91⁺	0.57	0.46
4	1.76	0.52	0.63
5	2.12	0.69	0.20
6	2.00	NA	0.90
7	2.20	1.20	0.50
8	1.60	0.76	0.50
9	2.64	1.00	0.50
10	1.92	0.63	0.30
11	0.94⁺	0.85	0.60
12	0.61⁺	0.48	0.90
13	0.88⁺	NA	0.60
14	1.48	0.57	1.12
15	2.84	0.66	0.40

Reference values: GLA activity in leukocytes >33 nmol MU/h/mg protein; GLA activity in dried blood spots >2.5 μmol/l/h. Lyso-Gb3 plasma <2.2 ng/ml; NA: not available; FI: fold induction; FD: Fabry disease. *: index patient; ⁺: reduced GLA activity.

ISSN: 1750-1172