Plasma and lipoprotein fatty acid composition in glycogen storage disease type I

Nocturnal intragastric feeding has been shown to be an effective means to improve clinical and biochemical features in glycogen storage disease type I (GSD-I). In this study, we investigated the fatty acid patterns in a whole plasma and in circulating lipoproteins in patients on this therapy. The results demonstrated massive concentration of total fatty acids coupled with higher levels of triglycerides, free cholesterol, cholesterol ester and phospholipids. This hyperlipidemia involved all fatty acids without distinction of carbon or bond numbers. However, the increase was more pronounced for saturated than polyunsaturated fatty acids, as was demonstrated by the ratios of both oleic acid to linoleic acid (1.91 +/- 0.40 vs 0.80 +/- 0.09 in controls) and of omega 3 + omega 6 to omega 9 fatty acid families (0.92 +/- 0.11 vs 1.66 +/- 0.08 in controls). The fatty acid patterns in very low (VLDL), low (LDL) and high (HDL) density lipoprotein showed substantial differences in composition, reflecting an association between an abnormal lipoprotein pattern and essential fatty acid deficiency. Furthermore, GSD-I patients exhibited a significant increase in VLDL (17 +/- 2 vs 47 +/- 7 mg/dl) and LDL cholesterol (124 +/- 7 vs 206 +/- 24 mg/dl), coupled with a decrease in HDL cholesterol (49 +/- 4 vs 28 +/- 3 mg/dl). These data documenting high LDL cholesterol and low HDL cholesterol associated with an increased concentration and proportion of saturated fatty acids suggest that GSD-I patients on nocturnal intragastric feeding are at high risk for atherosclerosis and its complications.