Table 1 Genetic mutations and clinical records of 2 fabry disease patients

Gender

Male

Male

Age at diagnosis

32

24

GLA Mutation c

c.969delC

c.263A > G

GLA mutation p

p.Leu324Trpfs∗24

p.Tyr88Cys

Leukocyte α-galactosidase (nmol/h/mg protein)(reference range 35–100)

2.2

2.2

Gb-3 (μg/mL, normal range 3.9–9.9 μg/mL)

14.1

12.3

LysoGB-3 (ng/mL, normal range ≤ 1.74 ng/mL)

Not checked

3.52

Proteinuria (mg/24 h)

473

871

LVH on ECG

( +)

(−)

TTE

LVH

N/A

Angiokeratoma

( +)

(−)

Cornea verticillata

( +)

(−)

Anhidrosis

( +)

(−)

Chronic neurotic pain

( +)

(−)

Brain involvement

( +)

(−)