Table 1.
Clinical and molecular data of 20 LOPD patients
| Pat.-Nr. | Sex | GAA-Genotype | Age [years] | Duration disease (years) | Duration ERT (month) | Cardio-vascular risk factors | |
|---|---|---|---|---|---|---|---|
| P1a | F | IVS1 (− 13 T > G) | IVS9 G > C) | 26 | 15 | 67 | HL |
| P2 | F | p.L552P | p.P493L | 37 | 10 | 33 | HL, O |
| P3a | M | IVS1 (−13 T > G) | c.2136-7delGT | 50 | 40 | 116 | HYP, HL |
| P4a | M | IVS1 (−13 T > G) | p.W499R | 50 | 18 | 130 | DM, HL |
| P5a | M | IVS1 (−13 T > G) | p.P493L | 52 | 15 | 63 | HYP, HL |
| P6a | F | IVS1 (−13 T > G) | p.L552P | 53 | 17 | 99 | HYP, HL, O, S |
| P7a | M | IVS1 (−13 T > G) | p.C103G | 59 | 14 | 135 | HYP, DM, HL, O |
| P8a | F | IVS1 (−13 T > G) | p.P493L | 61 | 21 | 63 | HYP, HL |
| P9 | M | IVS1 (−13 T > G) | p.G309R | 64 | 11 | 14 | HYP, DM, O |
| P10a | F | IVS1 (−13 T > G) | del exon 18 | 75 | 40 | 103 | HYP |
| P11 | M | IVS1 (−13 T > G) | c.832delC | 45 | 6 | 17 | HYP, HL |
| P12 | F | IVS1 (−13 T > G) | c.525delT | 66 | 7 | 33 | HYP, HL |
| P13 | M | IVS1 (−13 T > G) | IVS1 (−13 T > G) | 61 | 13 | 29 | HYP, HL |
| P14 | F | IVS1 (−13 T > G) | c.2481 + 102_2646 + 31del | 54 | 18 | 44 | HYP, HL |
| P15 | F | IVS1 (−13 T > G) | c.2481 + 102_2646 + 31del | 56 | 19 | 48 | HYP, HL |
| P16a | F | IVS1 (−13 T > G) | c307 T > G | 49 | 23 | 119 | HL |
| P17 | M | IVS1 (−13 T > G) | p.G309R | 81 | 6 | 37 | HYP, HL |
| P18 | M | IVS1 (−13 T > G) | c.794delG | 49 | 13 | 84 | NONE |
| P19 | F | IVS1 (−13 T > G) | c.925G > A | 61 | 2 | 9 | HYP |
| P20 | M | IVS1 (−13 T > G) | c.525delT | 19 | 19 | 132 | NONE |
Patient P1-P10 were numbered according to their number in the previous study by Hensel et al. [7]. P5 + P8 and P14 + 15 were siblings; a patients with 5 years follow-up; Abbr.: ERT enzyme replacement therapy, GAA Glucosidase alpha gene. Risk factors: DM diabetes mellitus, HL hyperlipidemia, HYP Hypertension, O obesity, S smoking