Lipoprotein lipase deficiency
|Lipoprotein lipase deficiency|
|Classification and external resources|
Lipoprotein lipase deficiency (also known as "familial chylomicronemia syndrome", "chylomicronemia", "chylomicronemia syndrome" and "hyperlipoproteinemia type Ia") is caused by a mutation in the gene which codes lipoprotein lipase.:533 As a result, afflicted individuals lack the ability to produce lipoprotein lipase enzymes necessary for effective breakdown of fatty acids.
The disorder affects about 1 out of 1,000,000 people.
In 2012, the European Commission approved Glybera, a gene therapy treatment for chylomicronemia. The product will be available for sale in Germany in early 2015. Glybera was developed by uniQuire and will be marketed by Chiesi Group.
In October 2012, 3 officially recognised patient groups (Heart UK, CholCo & Association Pancréatites Chroniques) joined together to launch an international online patient community for Lipoprotein Lipase Deficiency on the RareConnect.org platform.
- Santamarina-Fojo, S (1998). "Familial lipoprotein lipase deficiency.". Endocrinol Metab Clin North Am 27 (3): 551–567. PMID 9785052.
- James, William D.; Berger, Timothy G. et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0. OCLC 62736861.
- Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. OCLC 212399895.
- Online 'Mendelian Inheritance in Man' (OMIM) HYPERLIPOPROTEINEMIA, TYPE I -238600, updated 03/18/2004. As of October 2012, mention of type Ia no longer appears in the OMIM record.
- A.D.A.M. Editorial Board (2011-05-29). Dugdale, III, David C.; Zieve, David, eds. Familial lipoprotein lipase deficiency. A.D.A.M. Medical Encyclopedia (National Center for Biotechnology Information, published May 29, 2011). Retrieved October 15, 2012
- Familial Chylomicronemia Syndrome is an online educational initiative to provide clinicians with peer reviewed information on how to diagnose and treat patients with familial chylomicronemia syndrome (FCS) [also known as hyperlipoproteinemia type 1 or lipoprotein lipase deficiency].
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