Homozygous LPL p.Gly188Glu Mutation in a Mexican Girl With Lipoprotein Lipase Deficiency
2
조회
0
다운로드
0
인용
0
참고문헌
초록
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.
Abstract
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.
참고문헌 (10)
- Kolářová H, "Lipoprotein lipase deficiency: clinical, biochemical and molecular characteristics in three patients with novel mutations in the LPL gene", Folia Biol (Praha), 60, pp.235~243 (2014)
- Rahalkar AR, "Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review", Can J Physiol Pharmacol, 87, pp.151~160 (2009)
- Ooi EM, "Apolipoprotein B-100-containing lipoprotein metabolism in sub-jects with lipoprotein lipase gene mutations", Arterioscler Thromb Vasc Biol, 32, pp.459~466 (2012)
- Gilbert B, "Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75% are clustered in exons 5 and 6", Ann Genet, 44, pp.25~32 (2001)
- Peterson J, "Structural and functional consequences of missense mutations in exon 5 of the lipoprotein lipase gene", J Lipid Res, 43, pp.398~406 (2002)
- Wittrup HH, "Lipoprotein lipase mutations, plasma lipids and lipoproteins, and risk of ischemic heart disease. A meta-analysis", Circulation, 99, pp.2901~2907 (1999)
- Goldberg IJ, "Triglycerides and heart disease: still a hypothesis?", Arterioscler Thromb Vasc Biol, 31, pp.1716~1725 (2011)
- Scott LJ, "Alipogene tiparvovec: a review of its use in adults with familial lipoprotein lipase deficiency", Drugs, 75, pp.175~182 (2015)
- Kniery KR, "The fatty spleen : Severe hypertriglyceridemia leading to splenomegaly in a child", J Pediatr Surg Case Rep, 17, pp.25~27 (2017)