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Article

Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review.

Canadian journal of physiology and pharmacology - 1 Mar 2009

Rahalkar Amit R, Giffen Fiona, Har Bryan, Ho Josephine, Morrison Katherine M, Hill John, Wang Jian, Hegele Robert A, Joy Tisha

Abstract excerpt

Lipoprotein lipase (LPL) is a key enzyme involved with hydrolysis and removal of triglycerides from plasma. LPL deficiency is a rare condition with an estimated prevalence of 1 in 106. It is characterized biochemically by elevated triglycerides and lowered HDL in the plasma and clinically by a constellation of signs and symptoms during childhood including failure to thrive, lipemia retinalis, eruptive xanthomas,...

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Source

Identifiers

PMID: 19295657
DOI: 10.1139/y09-005

Genes

LPL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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