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Table 1 Clinical manifestations; α-Gal A activity in plasma and leukocytes, galactosphignolipid concentrations and GLA mRNA expression

From: Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene

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**
  1. 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