This very rare hyperlipidemia is due to a deficiency of lipoprotein lipase (LPL) or altered apolipoprotein C2, resulting in elevated chylomicron which are the particles that transfer fatty acids from the digestive tract to the liver. Lipoprotein lipase is also responsible for the initial breakdown of endogenously made triacylglycerides in the form of very low density lipoprotein (VLDL). As such, one would expect a defect in LPL to also result in elevated VLDL. Its prevalence is one in 1,000,000 population.
Familial hyperchylomicronemia
Mevalonic aciduria
Homocystinuria
Phenylketonuria
Ornithine transcarbamylase deficiency
3-Methylglutaconic aciduria
Essential fructosuria
Alkaptonuria