Title |
Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene
|
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Published in |
Lipids in Health and Disease, September 2015
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DOI | 10.1186/s12944-015-0107-1 |
Pubmed ID | |
Authors |
Angela Ganan Soto, Adam McIntyre, Sungeeta Agrawal, Shara R. Bialo, Robert A. Hegele, Charlotte M. Boney |
Abstract |
Lipoprotein Lipase (LPL) deficiency is a rare autosomal recessive disorder with a heterogeneous clinical presentation. Several mutations in the LPL gene have been identified to cause decreased activity of the enzyme. An 11-week-old, exclusively breastfed male presented with coffee-ground emesis, melena, xanthomas, lipemia retinalis and chylomicronemia. Genomic DNA analysis identified lipoprotein lipase deficiency due to compound heterozygosity including a novel p.Q240H mutation in exon 5 of the lipoprotein lipase (LPL) gene. His severe hypertriglyceridemia, including xanthomas, resolved with dietary long-chain fat restriction. We describe a novel mutation of the LPL gene causing severe hypertriglyceridemia and report the response to treatment. A review of the current literature regarding LPL deficiency syndrome reveals a few potential new therapies under investigation. |
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Geographical breakdown
Country | Count | As % |
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Demographic breakdown
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Other | 3 | 13% |
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Student > Master | 3 | 13% |
Researcher | 2 | 9% |
Other | 4 | 17% |
Unknown | 4 | 17% |
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Physics and Astronomy | 1 | 4% |
Other | 1 | 4% |
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