Very low-density lipoprotein apolipoprotein B-100 turnover in glycogen storage disease type Ia (von Gierke disease)

Mixed hyperlipidaemia is a common finding in glycogen storage disease type Ia (GSD Ia). Although cross-sectional studies have demonstrated increases i n intermediate-density lipoproteins (IDLs) and reductions in lipoprotein li pase activity, no studies have investigated the dynamics of apolipoprotein B-100 (apo B) metabolism in GSD Ia. This study investigated apoB turnover i n GSD Ia using an exogenous labelling method in one sib from a kinship with established GSD Ia. The study demonstrated normal hepatic secretion of ver y low-density lipoprotein (VLDL.), but hypocatabolism of VLDL, probably due to lack of lipoprotein lipase activity. The production rate of IDL was sli ghtly increased, but the turnover rate of low-density lipoprotein was norma l. The findings suggest that, as well as a corn starch diet and dietary, fa t restriction, treatment of severe mixed hyperlipidaemia in GSD Ia and its attendant risk of pancreatitis should possibly involve fibrates that activa te lipoprotein lipase and may enhance the clearance of IDL, rather than ome ga -3 fatty acids, which principally suppress hepatic secretion of VLDL.