Eur J Pediatr. 2004 Aug;163(8):462-6. Epub 2004 Jun 5.

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

Kavazarakis E, Stabouli S, Gourgiotis D, Roumeliotou K, Traeger-Synodinos J, Bossios A, Fretzayas A, Kanavakis E.

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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

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.

PMID:: 15185149; [PubMed - indexed for MEDLINE]

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Severe hypertriglyceridaemia in a Greek infant: a clinical, biochemical and gene...
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