Severe hypertriglyceridaemia in a Greek infant: A clinical, biochemical and genetic study

European Journal of Pediatrics

Volumn 163, Issue 8, 2004, Pages 462-466

  Kavazarakis, Emmanuel ^a   Stabouli, Stella ^a   Gourgiotis, Dimitrios ^a   Roumeliotou, Katerina ^a   Traeger Synodinos, Joanne ^a   Bossios, Apostolos ^a   Fretzayas, Andrew ^a   Kanavakis, Emmanuel ^a  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

Author keywords

Compound heterozygosity; Familial chylomicronaemia; Hypertriglyceridaemia; Lipoprotein lipase; Mutation

Indexed keywords

LIPOPROTEIN LIPASE; MEDIUM CHAIN TRIACYLGLYCEROL;

ARTICLE; BIOCHEMISTRY; CASE REPORT; CHYLOMICRONEMIA SYNDROME; CLINICAL FEATURE; DIET THERAPY; DISEASE COURSE; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; DNA DETERMINATION; FEMALE; GENE MUTATION; GENETICS; HETEROZYGOSITY; HUMAN; HYPERTRIGLYCERIDEMIA; IMMUNOREACTIVITY; INFANT; LABORATORY TEST; MISSENSE MUTATION; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TREATMENT OUTCOME;

EID: 3543042567     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-004-1474-1     Document Type: Article

References (20)

1. Benlian P, De Gennes GL, Foubert L, Zhang H, Gagne SE, Hayden M (1996) Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene. N Engl J Med 335: 848-854
2. Brunzell JD (1995) Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease. McGraw-Hill, New York, pp 1913-1932
3. Feoli-Fonseca JC, Levy E, Godard M, Lambert M (1998) Familial lipoprotein lipase deficiency in infancy: clinical, biochemical and molecular study. J Pediatr 133: 417-423
4. Fischer RM, Humphries SE, Talmud PJ (1997) Common variation in the lipoprotein lipase gene: effects on plasma lipids and risk of atherosclerosis. Atherosclerosis 135: 145-159
5. Foubert L, De Gennes JL, Lagarde JP, Ehrenborg E, Raisonnier A, Girardet JP, Hayden MR, Benlian P (1997) Assessment of French patients with LPL deficiency for French-Canadian mutations. J Med Genet 34: 672-675
6. Gantin B, Brun LD, Gagne C, Murthy MR, Lupien PJ, Julien P (1992) Alterations in erythrocyte membrane lipid composition in primary lipoprotein lipase deficiency. Biochim Biophys Acta 1139: 25-31
7. Gantin B, Boudriau S, Bertrand M, Brun LD, Gagne C, Rogers PA, Ven Murthy MR, Lupien PJ, Julien P (1995) Hemolysis in primary lipoprotein lipase deficiency. Metabolism 44: 652-658
8. Gehrisch S (1999) Common mutations of the lipoprotein lipase gene and their clinical significance. Curr Atheroscler Rep 1: 70-80
9. Gilbert B, Rouis M, Griglio S, De Lumley L, Laplaud P (2001) 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: 25-32
10. Mailly F, Palmen J, Muller DPR, Gibbs T, Lloyd J, Brunzell J, Durrington P, Mitropoulos K, Betteridge J, Watt G, Lithell H, Angelico F, Humphries SE, Talmud PJ (1997) Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden and Italy. Human Mutat 10: 465-473
11. Murthy V, Julien P, Gagne C (1996) Molecular pathobiology of the human lipoprotein lipase gene. Pharmacol Ther 70: 101-135
12. Molsave MV, Hederson H, Roederer G, Julien P, Deeb S, Kastelein JJ, Peritz L, Devlin R, Bruin T, Murthy MR (1990) A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries. J Clin Invest 86: 728-734
13. Nordestgaard BG, Glostrup AT (1999) Susceptibility mutations for ischemic heart disease. Curr Atheroscler Rep 1: 108-114
14. Nordestgaard B, Abilldgaard S, Wittrup HH, Steffensen R, Jensen G, Tybaerg-Hansen A (1997) Heterozygous lipoprotein lipase deficiency: frequency in the general population, effect on plasma lipid levels, and risk of ischemic heart disease. Circulation 96: 1737-1744
15. Oka K, Tkalcevit GT, Nakano T, Tucker H, Ishimura OK, Brown WV (1990) Structure and polymorphic map of human lipoprotein lipase gene. Biochim Biophys Acta 1049: 21-26
16. Rouis M, Dugi K, Previato L, Patterson A, Brunzell J, Brewer B, Santamarina-Fojo S (1997) Therapeutic response to medium-chain triglycerides and ω-3 fatty acids in a patient with familial chylomicronemia syndrome. Arterioscler Thromb Vasc Biol 17: 1400-1406
17. Santamarina-Fojo S (1998) The familial chylomicronemia syndrome. Endocrinol Metab Clin North Am 27: 551-567
18. Sartippour MR, Renier G (2000) Upregulation of macrophage lipoprotein lipase in patients with type 2 diabetes. Diabetes 49: 597-602
19. Wittrup HH, Tybjaerg-Hansen A, Nordestgaard BG (1999) Lipoprotein lipase mutations, plasma lipids and lipoproteins and risk of ischemic heart disease. A meta-analysis. Circulation 99: 2901-2907
20. Yasuyuki I, Atsuko T, Yasuhiko O, Ken-ichi N, Taketoshi I, Shigeru K, Akira Y (1990) A sandwich-enzyme immunoassay for the quantification of lipoprotein lipase and hepatic lipase in human post-heparin plasma using monoclonal antibodies to the corresponding enzymes. J Lipid Res 31: 1991-1924