Table 1.

Characteristics of patients identified in the screening

Patient	Characteristics	Mutation	Sex	Age, years	α-Gal A activity on Leukocytes, nmol/h/mg of protein	α-Gal A activity on DBS, nmol/h/spot	α-Gal A mutation
							Genomic Reference Sequence (X14448)	Coding DNA Reference Sequence (X14448)
1	Angiokeratoma; fever episodes; hypohidrosis; gastrointestinal problems; proteinuria; progressive hearing loss; valvular dysfunction and arrhythmias; stroke at 71 years; Mother died due to a Transient Ischemic Attack (TIA).	R118C	Male	72	20 (35% of control mean)	0.164 (26% of control mean)	g.5251 C>T	c.352 C>T
2	Abdominal pain; nephropathy; left nephrectomy; cataracts; progressive loss of vision. Sister diagnosed with FD. Presents Front temporal sub cortical and cortical atrophy; periventricular hypodensity of white matter	R118C	Male	83	n.a.	0.122 (20% of control mean)	g.5251 C>T	c.352 C>T
3	End-Stage Renal Disease (ESRD), LHV, valvular dysfunction	D313Y	Female	80	28 (49% of control mean)	0.371 (59% of control mean)	g.10645 G>T	c.937 C>T
4*	Proteinuria glomerulosclerosis and hyalosis in kidney biopsy; kidney transplantation failure; HBP; Human Immunodeficiency Virus (HIV); An uncle and a cousin with kidney dysfunction. Another cousin with hypoacusia	R118C	Female	47	45 (79% of control mean)	0.592 (94% of control mean)	g.5251 C>T	c.352 C>T
5*	Sister of patient 4 also identified as an index patient. LVH in dilatation phase and multi-valvular disease; HBP. Pigmentary macular edema; Cirrhosis, HIV; Son and sister with FD; Both with proteinuria.	R118C	Female	50	34 (60% of control mean)	0.770 (123% of control mean)	g.5251 C>T	c.352 C>T
6	Angiokeratoma; acroparesthesia; fever episodes; abdominal pain; nephropathy; policysts; LVH, auricular fibrillation; acute myocardial infarction. Two daughters diagnosed with FD	p.Val199GlyfsX203	Female	58	n.a	0.153 (24% of control mean)	g.8368_8369 insG	c.595_596 ins G
7	Nephropathy; Psychological problems; kidney transplant, TIA, valvular dysfunction, arrhythmias patient refused to be studied. Relative diagnosed with FD	p.Gly346AlafsX347	Male	54	n.a.	0.001 (0% of control mean)	g.11016delG	c.1037 delG
8	Dyspnea, palpitations, proteinuria, kidney transplant, LHV, valvular dysfunction, arrhythmias.	D313Y	Male	74	22 (39% of control mean)	0.292 (46% of control mean)	g.10645 G>T	c.937 C>T

Control Values DBS - Mean -> 0.62 nmol\h\spot; Minimum -> 0.3 nmol\h\spot

Leucocytes - Mean -> 57 nmol\h\mg of protein; Minimum -> 28 nmol\h\mg of protein

() - Percentage of the mean value obtained in controls and patients, respectively;

n.a. - not available; * - sisters