Hyperlipoproteinemia, Type I

**Semantic type:** Disease or Syndrome

**Definition:** A genetic condition caused by mutation(s) in the LPL gene, encoding lipoprotein lipase, resulting in reduced activity of the enzyme lipoprotein lipase.

**Synonyms:** - Familial Essential Hyperlipemia - Familial Hyperchylomicronemia - Hyperlipoproteinemia Type 1A - Lipoprotein Lipase Deficiency