UNLABELLED: A 32-day-old girl with massive hypertriglyceridaemia and clinical signs of chylomicronaemia syndrome is described. Genetic study of the patient revealed compound heterozygosity for a common lipoprotein lipase gene mutation (G188E) and a novel missense mutation (M301R), consistent with reduced post-heparin plasma lipoprotein lipase immunoreactive mass observed. CONCLUSION: to the best of our knowledge, this is the first description of a patient with a M301R mutation in the lipoprotein lipase gene. In addition, dietary therapy with medium-chain triglycerides was successful supporting the effectiveness of this therapeutic approach in familial chylomicronaemia syndrome. Copyright 2004 Springer-Verlag
UNLABELLED: A 32-day-old girl with massive hypertriglyceridaemia and clinical signs of chylomicronaemia syndrome is described. Genetic study of the patient revealed compound heterozygosity for a common lipoprotein lipase gene mutation (G188E) and a novel missense mutation (M301R), consistent with reduced post-heparin plasma lipoprotein lipase immunoreactive mass observed. CONCLUSION: to the best of our knowledge, this is the first description of a patient with a M301R mutation in the lipoprotein lipase gene. In addition, dietary therapy with medium-chain triglycerides was successful supporting the effectiveness of this therapeutic approach in familial chylomicronaemia syndrome. Copyright 2004 Springer-Verlag
Authors: B G Nordestgaard; S Abildgaard; H H Wittrup; R Steffensen; G Jensen; A Tybjaerg-Hansen Journal: Circulation Date: 1997-09-16 Impact factor: 29.690
Authors: M Rouis; K A Dugi; L Previato; A P Patterson; J D Brunzell; H B Brewer; S Santamarina-Fojo Journal: Arterioscler Thromb Vasc Biol Date: 1997-07 Impact factor: 8.311