Term Name: | familial lipoprotein lipase deficiency |
---|---|
Synonyms: | familial hyperlipoproteinemia type I, familial LPL deficiency, Fredrickson type I hyperlipoproteinemia, Fredrickson type I lipaemia, hypercholesterinaemic xanthomatosis, hyperchylomicronemia, mixed hyperglyceridemia |
Definition: | A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides. |
Ontology: | Human Disease [DOID:14118] ( DOID:14118 ) |