Table 2 Subjects with late onset variants in GLA or p.Asp313Tyr polymorphism, Activity of ɑ-Gal A is expressed in μmol/Lh ± Standard deviation. Age at diagnosis is indicated. M: hemizygous men F: heterozygous females. FS: family study; X: not indicated, NM. Not measured; Symptoms 1: Renal Failure 2: Ventricular Hypertrophy; 3: Acroparesthesia, 4: Angiokeratome; 5: Cardiomegaly; 6: Fabry Facies; 7: Hernia; 8: Hypohidrosis; 9: Intolerance to heat or cold; 10: Neuropathic pain; 11: Corneal clouding; 12: Stroke in the young, 13: Hypertrophic, myocardiopathy
From: Fabry disease in the Spanish population: observational study with detection of 77 patients
Code# | Age | Sex | Medical Department | Symptoms | É‘-Gal A Activity | Variant |
|---|---|---|---|---|---|---|
80 | 42 | F | Neurology | FS | 3.6 ± 1.76 | c.352C > T;p.Arg118Cys |
81 | 51 | F | FS | 2.33 ± 0.43 | ||
82 | 28 | F | FS | 5.83 ± 0.13 | ||
83 | 31 | F | FS | 6.64 ± 0.13 | ||
84 | X | M | Genetics | 6,13 | 4.21 ± 2.02 | c.427G > A; p.Ala143Thr |
85 | 45 | F | FS | NM | ||
86 | X | F | 2,13 | NM | ||
87 | 17 | F | Neurology | FS | 3.05 ± 0.17 | |
88 | 75 | M | Cardiology | FS | 3.77 ± 0.22 | c.937G > T; p.Asp313Tyr |
89 | 57 | F | Nephrology | FS | 4.28 ± 0.79 | |
90 | X | M | Genetics | FS | 5.2 ± 0.87 | |
91 | 35 | M | Neurology | FS | 3.8 ± 1.57 | |
92 | 1 | F | Nephrology | 1 | 8.69 ± 1.93 | |
93 | 48 | M | Neurology | 3,5 | 5.5 ± 0.41 | |
94 | 45 | F | Clinical Pathology | 2,5 | 6.63 ± 0.56 |