Lipoprotein lipase deficiency

Lipoprotein lipase deficiency
Classification and external resources
ICD-10 E78
OMIM 238600
DiseasesDB 4697
MedlinePlus 000408
MeSH D008072
GeneReviews Familial Lipoprotein Lipase Deficiency

Lipoprotein lipase deficiency (also known as "chylomicronemia,",[1] "chylomicronemia syndrome"[2] and "hyperlipoproteinemia type Ia"[3]) is caused by a mutation in the gene which codes lipoprotein lipase.[1]:533. As a result, afflicted individuals lack the ability to produce lipoprotein lipase enzymes necessary for effective breakdown of fatty acids.

See also


  1. ^ a b James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0. 
  2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
  3. ^ OMIM entry 238600 last updated 03/18/2004

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