title: Severe hypertriglyceridaemia in a Greek infant: a clinical, biochemical and genetic study.
abstract: A 32-day-old girl with massive hypertriglyceridaemia and clinical signs of chylomicronaemia syndrome is described. Genetic study of the patient revealed compound heterozygosity for a common lipoprotein lipase gene mutation (G188E) and a novel missense mutation (M301R), consistent with reduced post-heparin plasma lipoprotein lipase immunoreactive mass observed.
  
  
  CONCLUSIONS
  to the best of our knowledge, this is the first description of a patient with a M301R mutation in the lipoprotein lipase gene. In addition, dietary therapy with medium-chain triglycerides was successful supporting the effectiveness of this therapeutic approach in familial chylomicronaemia syndrome.
authors.affiliation: 2nd Department of Paediatrics, Athens University Medical School, "P. and A. Kyriakou" Children's Hospital, Thibon and Levadias, Goudi, Athens, Greece. emka@ath.forthnet.gr
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Kavazarakis
authors.forename: Stella
authors.initials: S
authors.lastname: Stabouli
authors.forename: Dimitrios
authors.initials: D
authors.lastname: Gourgiotis
authors.forename: Katerina
authors.initials: K
authors.lastname: Roumeliotou
authors.forename: Joanne
authors.initials: J
authors.lastname: Traeger-Synodinos
authors.forename: Apostolos
authors.initials: A
authors.lastname: Bossios
authors.forename: Andrew
authors.initials: A
authors.lastname: Fretzayas
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Kanavakis
mesh_terms: D016632:Apolipoprotein A-I / Q000097:blood; D001055:Apolipoproteins B / Q000097:blood; D002784:Cholesterol / Q000097:blood; D002914:Chylomicrons / Q000097:blood*; D005260:Female; D006579:Heterozygote; D006801:Humans; D006953:Hyperlipoproteinemia Type IV / Q000097:blood / Q000178:diet therapy / Q000235:genetics*; D007223:Infant; D008071:Lipoprotein Lipase / Q000235:genetics*; D020125:Mutation, Missense; D014280:Triglycerides / Q000627:therapeutic use
chemical_list: D016632:Apolipoprotein A-I; D001055:Apolipoproteins B; D002914:Chylomicrons; D014280:Triglycerides; D002784:Cholesterol; D008071:Lipoprotein Lipase