Vascular Dysfunction in Glycogen Storage Disease Type I

Objective To determine cardiovascular disease risk in a larger cohort of patients with glycogen storage disease (GSD) I through the use of noninvasive measures of arterial function and anatomy. Study design Carotid intima media thickness (IMT). radial artery tonometry, and brachial artery reactivity were performed in 28 patients with GSD I (13F/15M, mean age 23 years) and 23 control subjects (19F/4M, mean age 23 years). Results The primary outcome measure, mean left distal IMT was greater in the GSD cohort (0.500 +/- 0.055 mm) than in the control group (0.457 +/- 0.039 min) (P = .002, adjusted for age, sex, and body mass index). Mean augmentation index measured by radial artery tonometry was higher in the GSD cohort (16.4% +/- 14.0%) than in the control group (2.4% +/- 8.7%) (P < .001.). No significant difference was observed between mean brachial artery reactivity in the GSD cohort (6.3% +/- 4.9% change) versus control subjects (6.6% +/- 5.1% change) (P = .46). Conclusions GSD I is associated with arterial dysfunction evident by increased UNIT and augmentation index. Patients with GSD I may be at increased risk for cardiovascular disease. (J Pediatr 2009;154:588-91)