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

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-h...

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Bibliographic Details
Published in:European journal of pediatrics 2004-08, Vol.163 (8), p.462-466
Main Authors: KAVAZARAKIS, Emmanuel, STABOULI, Stella, GOURGIOTIS, Dimitrios, ROUMELIOTOU, Katerina, TRAEGER-SYNODINOS, Joanne, BOSSIOS, Apostolos, FRETZAYAS, Andrew, KANAVAKIS, Emmanuel
Format: Article
Language:English
Subjects:
Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy
Apolipoprotein A-I - blood
Apolipoproteins B - blood
Biological and medical sciences
Cholesterol - blood
Chylomicrons - blood
Disorders of blood lipids. Hyperlipoproteinemia
Emergency and intensive care: neonates and children. Prematurity. Sudden death
Female
General aspects
Heterozygote
Humans
Hyperlipoproteinemia Type IV - blood
Hyperlipoproteinemia Type IV - diet therapy
Hyperlipoproteinemia Type IV - genetics
Infant
Intensive care medicine
Lipoprotein Lipase - genetics
Medical sciences
Metabolic diseases
Mutation, Missense
Triglycerides - therapeutic use
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Description
Summary: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. 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.
ISSN:0340-6199
1432-1076
DOI:10.1007/s00431-004-1474-1