Table 1.
Clinical manifestations; α-Gal A activity in plasma and leukocytes, galactosphignolipid concentrations and GLA mRNA expression
| ID | SEX | Age | Variants | Clinical Manifestations | galactosphingolipids | galactosphingolipids | α-Gal A | α-Gal A | mRNA | mRNA |
|---|---|---|---|---|---|---|---|---|---|---|
| CIH | Leukocytes | Fibroblasts | Leukocytes | Plasma | GLA | GLA-M | ||||
| (nmol/mg protein) | (nmol/mg protein) | (nmol/mg protein/h) | (nmol/mL/h) | RQ | RQ | |||||
| F1.1 | f | 43 | Het | Ischemic heart disease, Gastro- intestinal, Fine fiber alterations | 0.62 | 0.83 | 63 | 23 | 0.48* | 0.85 |
| F1.2 | m | 39 | Hemi | Acroparesthesias, Heat intolerance, Hypohidrosis, Hearing loss | 0.13 | N/A | 57 | 19 | 0.41 | 5.47 |
| F1.3 | m | 53 | Hemi | Acroparesthesias, Heat intolerance, Hypohidrosis | 0.11 | 0.80 | 38 | 14 | 0.36* | 0.84 |
| F1.4 | m | 41 | Hemi | Hearing loss, Microalbuminuria, Renal deposits | 0.11 | 1.12 | 37 | 15 | 0.88 | 2.56 |
| F1.5 | f | 20 | Het | N/A | 0.13 | N/A | 42 | 37 | N/A | N/A |
| F1.6 | f | 7 | Het | Microalbuminuria | N/A | N/A | N/A | 9 | N/A | N/A |
| F1.7 | f | 37 | Het | Acropaesthesias, Microalbumminuria, Hypohidrosis, Tachyarrhythmias | 0.06 | N/A | 43 | 15 | 1.06 | 1.51 |
| F1.8 | f | 72 | Het | N/A | 0.27 | N/A | 51 | 35 | 1.12 | 0.90 |
| F1.10 | m | 49 | Hemi | Left Ventricular Hypertrophy | 1.93 | 0.93 | 39 | 9 | 0.02** | 117.76** |
CIH = c.-10C > T [rs2071225], c.369 + 990C > A [rs1023431], c.370-81_370-77delCAGCC [rs5903184], c.640-16A > G [rs2071397], c.1000-22C > T [rs2071228]. The mean ± SD normal concentration of leukocytes galactosphingolipids is (n = 17) 0.33 ± 0.3 (nmol/mg protein). The mean ± SD normal concentration of fibroblasts galactosphingolipids is (n = 5) 0.63 ± 0.12 (nmol/mg protein). The normal mean ± SD of α-Gal A leukocyte activity in our assay is (n = 27) 58.1 ± 26.6 (nmol/mg protein/hour) and normal mean ± SD of α-Gal A plasma activity is (n = 33) 20.8 ± 22.03 (nmol/mL/ hour). * = p < 0.05, ** = p < 0.001. N/A = Not applicable