Lipoprotein lipase deficiency
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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
- Primary hyperlipoproteinemia
- Familial apoprotein CII deficiency
- List of cutaneous conditions
References
- ^ 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.
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- ^ OMIM entry 238600 last updated 03/18/2004
Inborn error of lipid metabolism: dyslipidemia (E78, 272.0–272.6) Hyperlipidemia Hypercholesterolemia/Hypertriglyceridemia (Lipoprotein lipase deficiency/Type Ia, Familial apoprotein CII deficiency/Type Ib, Familial hypercholesterolemia/Type IIa, Combined hyperlipidemia/Type IIb, Familial dysbetalipoproteinemia/Type III, Familial hypertriglyceridemia/Type IV) · Xanthoma/XanthomatosisHypolipoproteinemia Lipodystrophy Other Categories:- Lipid metabolism disorders
- Skin conditions resulting from errors in metabolism
- Disease stubs
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