Dyslipidaemia in a boy with recurrent abdominal pain, hypersalivation and decreased lipoprotein lipase activity

European Journal of Pediatrics

Volumn 155, Issue 8, 1996, Pages 660-664

  Matern, D ^a   Seydewitz, H ^a   Niederhoff, H ^a   Wiebusch, H ^b   Brandis, M ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

DNA analysis; Hypersalivation; Hypertriglyceridaemia; Lipoprotein lipase; Pancreatitis

Indexed keywords

DNA; LIPOPROTEIN LIPASE; NICOTINIC ACID; OMEGA 3 FATTY ACID;

ABDOMINAL PAIN; ARTICLE; CASE REPORT; DIFFERENTIAL DIAGNOSIS; DYSLIPIDEMIA; ENZYME ACTIVITY; ENZYME DEFICIENCY; FAT INTAKE; HETEROZYGOTE; HUMAN; HYPERSALIVATION; MALE; MUTATION; ORAL DRUG ADMINISTRATION; PANCREATITIS; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0030055575     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01957148     Document Type: Article

References (28)

1. Ameis D, Merkel M, Eckerskorn C, Greten H (1994) Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase. Eur J Biochem 219(3): 905-914
2. Baginsky ML (1980) Post-heparin lipolytic activity. Methods Enzymol 72: 325-337
3. Braun JEA, Severson DL (1992) Regulation of the synthesis, processing and translocation of lipoprotein lipase. Biochem J 287: 337-347
4. Brunzell JD (1995) Familial lipoprotein lipase deficiency and other causes of the chylomicronaemia syndrome. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 1913-1932
5. Brunzell JD, Miller NE, Alaupovic P, Hilaire RJ, Wang CS, Sarson DL, Bloom SR, Lewis B (1983) Familial chylomicronaemia due to a circulating inhibitor of lipoprotein lipase activity. J Lipid Res 24(1): 12-19
6. Drash AL (1991) Genetic forms of dyslipidaemia in children. Ann N Y Acad Sci 623: 222-238
7. Eckel RH (1989) Lipoprotein lipase - a multifunctional enzyme relevant to common metabolic diseases. N Engl J Med 320: 1060-1068
8. Elbein SC, Yeager C, Kwong LK, Lingam A, Inoue I, Lalouel JM, Wilson DE (1994) Molecular screening of the lipoprotein lipase gene in hypertriglyceridaemic members of familial noninsulin-dependent diabetes mellitus families. J Clin Endocrinol Metab 79(5): 1450-1456
9. 156Gly) causing familial lipoprotein lipase deficiency. J Biol Chem 266: 14418-14424
10. Gagné C, Brun LD, Julien P, Moorjani S, Lupien PJ (1989) Primary lipoprotein-lipase-activity deficiency: clinical investigation of a French Canadian population. Can Med Assoc J 140: 405-411
11. Gouni I, Oka K, Etienne J, Chan L (1993) Endotoxin-induced hypertriglyceridaemia is mediated by suppression of lipoprotein lipase at a post-transcriptional level. J Lipid Res 34: 139-146
12. Hata A, Robertson M, Emi M, Lalouel JM (1990) Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene. Nucleic Acids Res 18: 5407-5411
13. Hayden MR, Kastelein JJ, Funke H, Brunzell JD, Ma Y (1993) Phenotypic variation of mutations in the human lipoprotein-lipase gene. Biochem Soc Trans 21: 506-509
14. Henderson HE, Ma Y, Liu M-S, Clark-Lewis I, Maeder DL, Kastelein JJP, Brunzell JD, Hayden MR (1993) Structure-function relationships of lipoprotein lipase: mutation analysis and mutagenesis of the loop region. J Lipid Res 34: 1593-1602
15. Hill JS, Pritchard PH (1990) Improved phenotyping of apolipoprotein E: application to population frequency distribution. Clin Chem 36: 1871-1874
16. Hultman T, Bergh S, Moks T, Uhlen M (1991) Bidirectional solid phase sequencing of in vitro amplified plasmid DNA. Bio Techniques 10: 84-93
17. Klör HU (1990) Das Chylomikronämie-Syndrom - Pathophysiologie, Klinik und Therapie. Klin Wochenschr 68[Suppl XXII]: 68-75
18. Kobayashi J, Nishida T, Ameis D, Stahnke G, Schotz MC, Hashimoto H, Fukamachi I, Shirai K, Saito Y, Yoshida S (1992) A heterozygote mutation (the codon for Ser447 → a stop codon) in lipoprotein lipase contributes to a defect in lipid interface recognition in a case with type I hyperlipidemia. Biochem Biophys Res Commun 182: 70-77
19. Kozuki K, Gotoda T, Kawamura M, Shimano H, Yazaki Y, Ouchi Y, Orimo H, Yamada N (1993) Mutational analysis of human lipoprotein lipase by carboxy-terminal truncation. J Lipid Res 34: 1765-1772
20. Lalouel J-M, Wilson DE, Iverius P-H (1992) Lipoprotein lipase and hepatic triglyceride lipase: molecular and genetic aspects. Curr Op Lipid 3: 86-95
21. Lohse P, Lohse P, Beg O, Brunzell JD, Santamarina-Fojo S, Brewer HB (1991) Familial chylomicronaemia: identification of a unique patient homozygote tor two separate mutations in the LPL gene [Abstract]. Arteriosclerosis Thromb 11: 1415a
22. Ma Y, Henderson HE, Ven Murthy MR, Roederer G, Monsalve MV, Clarke LA, Normand T, Julien P, Gagné C, Lambert M, Davignon J, Lupien PJ, Brunzell J, Hayden MR (1991) A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronaemia in French Canadians. N Engl J Med 324: 1761-1766
23. 9Asn): Functional implications and prevalence in normal and hyperlipidaemic subjects. Arteroscler Thromb 15(4): 468-478
24. Minnich A, Kessling A, Roy M, Giry C, DeLangavant G, Lavigne J, Lussier-Cacan S, Davignon J (1995) Prevalence of alleles encoding defective lipoprotein lipase in hyper-triglyceridemic patients of French Canadian descent. J Lipid Res 36 (1): 117-124
25. Normand T, Bergeron J, Fernandez-Margallo T, Bharucha A, Ven Murthy MR, Julien P, Gagné C, Dionne C, De Braekelcer M, Ma R, Hayden MR (1992) Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Quebec. Hum Genet 89: 671-675
26. Stocks J, Thorn JA, Galton DJ (1992) Lipoprotein lipase genotypes for a common premature termination codon mutation detected by PCR-mediated site-directed mutagenesis and restriction digestion. J Lipid Res 33: 853-857
27. 19Thr) in hypertriglyceridaemic individuals. J Mol Med 73: 373-378
28. Wieland H, Seidel D (1978) Fortschritte in der Anlalytik des Lipoproteinmusters. Inn Med 5: 290-300