Lipoprotein lipase deficiency

Lipoprotein lipase deficiency
Other namesLPLD; familial chylomicronemia syndrome, chylomicronemia,: 533  chylomicronemia syndrome, familial hyperchylomicronemia, familial hyperchylomicronemia syndrome, hyperlipoproteinemia type Ia., type I hyperlipoproteinemia
Lipoprotein lipase deficiency is inherited via autosomal recessive manner
SpecialtyEndocrinology 
CausesGenetic

Lipoprotein lipase deficiency is a genetic disorder in which a person has a defective gene for lipoprotein lipase, which leads to very high triglycerides, which in turn causes stomach pain and deposits of fat under the skin, and which can lead to problems with the pancreas and liver, which in turn can lead to diabetes. The disorder only occurs if a child acquires the defective gene from both parents (it is autosomal recessive). It is managed by restricting fat in diet to less than 20 g/day.

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