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Homozygous LPL p.Gly188Glu Mutation in a Mexican Girl With Lipoprotein Lipase Deficiency
Ana Gabriela Colima Fausto,Juan Ramón González García,Teresita De Jesús Hernández Flores,Norma Alejandra Vázquez Cárdenas,Nery Eduardo Solís Perales,María Teresa Magaña Torres 대한진단검사의학회 2017 Annals of Laboratory Medicine Vol.37 No.4
Dear Editor, Lipoprotein lipase (LPL) deficiency is a rare disease characterized by severe hypertriglyceridemia due to mutations in the LPL gene. It shows an autosomal recessive inheritance pattern and has a general prevalence of 1:1,000,000 [1]. Patients typically present abdominal pain, hemorrhage, failure to thrive, jaundice, eruptive xanthomas, lipemia retinalis, neurological complications, hepatosplenomegaly, and life-threatening pancreatitis [2]. The LPL gene is located on chromosomal band 8p22, contains 10 exons, and codes for a 475-amino acid protein that is active only in its dimeric form. The LPL protein has two functions in lipid metabolism: it hydrolyzes triglycerides and functions as a ligand [3]. The aim of this work is to describe the biochemical, clinical, and molecular features of a Mexican girl with LPL deficiency.