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 )

Relationships
is a type of: autosomal recessive disease familial chylomicronemia syndrome