Abstract
We describe a new case of lipoprotein lipase (LPL) deficiency in a 33 year old man with a history of milky serum, severe hypertriglyceridemia with hyperchylomicronemia and recurrent episodes of acute pancreatitis.
Analysis of the complete coding sequence, with intronic boundaries, and the promoter region of the LPL gene of the propositus revealed a G→C transversion at the 5’ donor splice site of intron 1. We suggest that this mutation is not compatible with normal mRNA processing and it is responsible for the defect in our patient.
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Capurso, A., Pepe, G., Chimienti, G., Resta, F., Lovecchio, M., Colacicco, A.M. (1993). A New Case of Lipoprotein Lipase Deficiency. In: Catapano, A.L., Gotto, A.M., Smith, L.C., Paoletti, R. (eds) Drugs Affecting Lipid Metabolism. Medical Science Symposia Series, vol 2. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-1703-6_14
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DOI: https://doi.org/10.1007/978-94-011-1703-6_14
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