KEGG   DISEASE: H00154Help
Entry
H00154                      Disease                                

Name
Hyperlipoproteinemia, type I
Description
Type I hyperlipoproteinemia is an autosomal recessive disorder caused by deficiency of lipoprotein lipase or its activator apolipoprotein C-II. The defects result in a massive increase in chylomicron and triglyceride levels in plasma.
Category
Inherited metabolic disease; Cardiovascular disease
BRITE hierarchy
Pathway
Glycerolipid metabolism
PPAR signaling pathway
Gene
LPL; lipoprotein lipase [HSA:4023] [KO:K01059]
APOC2; apolipoprotein C-II [HSA:344]
Drug
Bezafibrate [DR:D01366]
Fenofibrate [DR:D00565]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Nierman MC, Rip J, Twisk J, Meulenberg JJ, Kastelein JJ, Stroes ES, Kuivenhoven JA
  Title
Gene therapy for genetic lipoprotein lipase deficiency: from promise to practice.
  Journal
Neth J Med 63:14-9 (2005)
Reference
PMID:8843465
  Authors
Murthy V, Julien P, Gagne C
  Title
Molecular pathobiology of the human lipoprotein lipase gene.
  Journal
Pharmacol Ther 70:101-35 (1996)
Reference
PMID:3630977
  Authors
Berger GM
  Title
An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia.
  Journal
Am J Clin Pathol 88:369-73 (1987)
Reference
PMID:2010533
  Authors
Ameis D, Kobayashi J, Davis RC, Ben-Zeev O, Malloy MJ, Kane JP, Lee G, Wong H, Havel RJ, Schotz MC
  Title
Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.
  Journal
J Clin Invest 87:1165-70 (1991)

» Japanese version

DBGET integrated database retrieval system