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CASE FILES: BIOCHEMISTRY
B IO C H E M IS T R Y PE A R L S
Triglycerides (triacylglycerols, TG) are safely transported in the
bloodstream packaged into lipoproteins called chylomicrons or
very-low-density lipoproteins (VLDLs).
The most common genetic defect leading to hypertriglyceridemia is
a deficiency in lipoprotein lipase, which results in increased lev-
els of both chylomicrons and VLDL.
Individuals who are homozygous for the defective gene for lipopro-
tein lipase usually present with symptoms of chylomicronemia
(TG levels >2000 mg/dL, abdominal pain, pancreatitis, xan-
thomas,
lipemia retinalis)
in childhood.
REFERENCES
Brunzell JD, Deeb SS. Familial lipoprotein lipase deficiency, apo C-II deficiency,
and hepatic lipase deficiency. In: Scriver CR, Beaudet AL, Sly WS, et al., eds.
The Metabolic and Molecular Bases of Inherited Disease, 8th ed. New York:
McGraw-Hill, 2001.
Haymore BR, Parks JR, Oliver TG, et al. Hypertriglyceridemia. Hosp Physician
2005;41(3):17-24.
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