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

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

ISSN: 2730-6844