Severe hypertriglyceridaemia in a Greek infant: a clinical, biochemical and genetic study.
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Kavazarakis E, Stabouli S, Gourgiotis D, Roumeliotou K, Traeger-Synodinos J, Bossios A, Fretzayas A, Kanavakis E
Severe hypertriglyceridaemia in a Greek infant: a clinical, biochemical and genetic study.
Eur J Pediatr. 2004 Aug;163(8):462-6. Epub 2004 Jun 5.
- PubMed ID
- 15185149 [ View in PubMed]
- 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. CONCLUSION: 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.