Homozygous LPL p.Gly188Glu Mutation in a Mexican Girl With Lipoprotein Lipase Deficiency

• Published in: Annals of laboratory medicine Vol. 37; no. 4; pp. 355 - 358
• Main Authors: Colima Fausto, Ana Gabriela, González García, Juan Ramón, Hernández Flores, Teresita De Jesús, Vázquez Cárdenas, Norma Alejandra, Solís Perales, Nery Eduardo, Magaña Torres, María Teresa
• Format: Journal Article
• Language: English
• Published: Korea (South) The Korean Society for Laboratory Medicine 01.07.2017; 대한진단검사의학회
• Subjects: Child, Preschool; Female; Genotype; Homozygote; Humans; Hyperlipoproteinemia Type I - diagnosis; Hyperlipoproteinemia Type I - genetics; Letter to the Editor; Lipoprotein Lipase - genetics; Mexico; Pedigree; Polymorphism, Single Nucleotide; Sequence Analysis, DNA; 병리학; Mexico
• ISSN: 2234-3806; 2234-3814
• DOI: 10.3343/alm.2017.37.4.355

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. KCI Citation Count: 0