Lipoprotein lipase deficiency

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

References

  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
v · d · eInborn 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/Xanthomatosis
Hypolipoproteinemia
Lipodystrophy
Other

M: MET

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k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m(A16/C10),i(k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)



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  • Hepatic lipase — is a form of lipase. It is expressed in the liver and adrenal glands.cite journal |author=Dichek HL, Agrawal N, El Andaloussi N, Qian K |title=Attenuated corticosterone response to chronic ACTH stimulation in hepatic lipase deficient mice:… …   Wikipedia

  • familial apo C-II deficiency — familial apolipoprotein C II deficiency an autosomal recessive disorder caused by mutations in the APOC2 gene (locus: 19q13.2), leading to a lack of apo C II, a necessary cofactor for lipoprotein lipase. It results in familial… …   Medical dictionary

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