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Apolipoprotein E polymorphism and serum concentrations in patients with glycogen storage disease type Ia
Author(s) -
Trioche P.,
Francoual J.,
Capel L.,
Odièvre M.,
Lindenbaum A.,
Labrune P.
Publication year - 2000
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005605513534
Subject(s) - medicine , endocrinology , apolipoprotein e , triglyceride , apolipoprotein b , very low density lipoprotein , glycogen , glycogen storage disease , lipoprotein , biology , cholesterol , glycogen storage disease type i , blood lipids , disease
In patients with glycogen storage disease type Ia (glucose‐6‐phosphatase deficiency), serum triglyceride concentrations are markedly raised, whereas phospholipids and cholesterol levels are only moderately elevated. In addition, both VLDL and LDL lipoprotein fractions are raised. Despite these abnormalities, endothelial vascular dysfunction and atherosclerosis seem to be rare in such patients. In view of the crucial role of apolipoprotein E (apoE) in lipid metabolism, we studied both apoE polymorphism (40 patients) and serum concentration (20 patients) in patients with glycogen storage disease type Ia. The distribution of each allele at the apoE locus was similar to that reported in the general population, whereas serum apoE concentrations were raised in our patients. Raised apoE levels in the serum could play an important role in counterbalancing the at‐risk‐for‐atherosclerosis lipid profile of patients with glycogen storage disease type Ia. Moreover, E3 and E4 polymorphisms, predominant in our patients, have a high triglyceride binding capacity and are thus able to increase triglyceride clearance. However, the origin of raised concentrations of apoE is not completely clear though, bearing in mind previous reports regarding serum protein concentrations in such patients, increased hepatic synthesis is likely.