title: Quantification and genotyping of lipoprotein lipase in patients with diabetic lipaemia.
abstract: OBJECTIVE
  To determine if diabetic lipaemia is caused by loss of function mutations in the lipoprotein lipase gene, LPL.
  
  
  METHODS
  We conducted a case-control study over 2 years in two tertiary care hospitals in South Australia. Six patients with a history of diabetic lipaemia and 12 control subjects, with previous diabetic ketoacidosis and peak triglyceride concentrations < 2.4 mmol/l were included. Participants were well at the time of study investigations.
  
  
  RESULTS
  Only one patient with lipaemia had a loss of function mutation in LPL and no functional mutations in APOC2 or GPIHBP1 were identified. The mean lipoprotein lipase concentration was lower in patients with diabetic lipaemia than in control subjects (306 vs. 484 μg/l, P = 0.04). The mean fasting C-peptide concentration was higher in patients with diabetic lipaemia than in control subjects (771 vs. 50 pmol/l; P = 0.001).
  
  
  CONCLUSIONS
  Lipoprotein lipase deficiency in patients with a history of diabetic lipaemia was predominantly quantitative, rather than secondary to mutations in LPL, APOC2 or GPIHBP1. The majority of patients with severe hypertriglyceridaemia in diabetic ketoacidosis may have ketosis-prone Type 2, rather than Type 1, diabetes.
authors.affiliation: Southern Adelaide Diabetes and Endocrine Services, Adelaide, Australia.
authors.forename: A
authors.initials: A
authors.lastname: Radhakutty
authors.forename: J
authors.initials: J
authors.lastname: Shen
authors.forename: A J
authors.initials: AJ
authors.lastname: Hooper
authors.forename: S A
authors.initials: SA
authors.lastname: Miller
authors.forename: J R
authors.initials: JR
authors.lastname: Burnett
authors.forename: P M
authors.initials: PM
authors.lastname: Mah
authors.forename: M G
authors.initials: MG
authors.lastname: Burt
authors.forename: M P
authors.initials: MP
authors.lastname: Doogue
mesh_terms: D000328:Adult; D000368:Aged; D053304:Apolipoprotein C-II / Q000235:genetics; D016022:Case-Control Studies; D008076:Cholesterol, HDL / Q000378:metabolism; D003922:Diabetes Mellitus, Type 1 / Q000150:complications / Q000378:metabolism*; D003924:Diabetes Mellitus, Type 2 / Q000150:complications / Q000378:metabolism*; D016883:Diabetic Ketoacidosis / Q000378:metabolism; D005260:Female; D005838:Genotype; D006801:Humans; D006949:Hyperlipidemias / Q000209:etiology / Q000235:genetics* / Q000378:metabolism; D015228:Hypertriglyceridemia / Q000209:etiology / Q000235:genetics / Q000378:metabolism; D008071:Lipoprotein Lipase / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018110:Receptors, Lipoprotein / Q000235:genetics; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D053304:Apolipoprotein C-II; D008076:Cholesterol, HDL; C523701:GPIHBP1 protein, human; D018110:Receptors, Lipoprotein; C548261:LPL protein, human; D008071:Lipoprotein Lipase