Chylomicronemia is a lipid disorder characterized by extremely elevated cholesterol and triglycerides. Lipid electrophoresis reveal chylomicrons as the major lipoprotein.
For isolated lipoprotein lipase deficiency (LPLD) a new drug, tiparvovec, is undergoing clinical tests. It is injected intramuscularily where it substitutes the lacking enzyme.
| 1. |
BOGGS JD et al. (1957) The genetic mechanism of idiopathic hyperlipemia.
|
| 2. |
Feoli-Fonseca JC et al. (1998) Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study.
|
| 3. |
Cantin B et al. (1995) Hemolysis in primary lipoprotein lipase deficiency.
|
| 4. |
Brunzell JD et al. (1980) Heterogeneity of primary lipoprotein lipase deficiency.
|
| 5. |
Hoeg JM et al. (1983) Initial diagnosis of lipoprotein lipase deficiency in a 75-year-old man.
|
| 6. |
Wessler S et al. (1969) Classification and management of familial hyperlipoproteinemia.
|
| 7. |
Breckenridge WC et al. (1978) Hypertriglyceridemia associated with deficiency of apolipoprotein C-II.
|
| 8. |
Nevin NC et al. (1968) Hyperlipidaemic xanthomatosis. II. Mode of inheritance in 55 families with essential hyperlipidaemia and xanthomatosis.
|
| 9. |
None (1987) An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia.
|
| 10. |
None (1989) Lipoprotein lipase. A multifunctional enzyme relevant to common metabolic diseases.
|
| 11. |
Auwerx JH et al. (1989) Defective enzyme protein in lipoprotein lipase deficiency.
|
| 12. |
None (1937) Splenomegaly with Lipaemia.
|
| 13. |
Emi M et al. (1990) Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency.
|
| 14. |
Sternowsky HJ et al. (1977) Juvenile familial hypertriglyceridemia and growth retardation. Clinical and biochemical observations in three siblings.
|
| 17. |
HAVEL RJ et al. (1960) Idiopathic hyperlipemia: metabolic studies in an affected family.
|
| 18. |
Heaney AP et al. (1999) Prevention of recurrent pancreatitis in familial lipoprotein lipase deficiency with high-dose antioxidant therapy.
|
| 19. |
OMIM.ORG article Omim 238600
|
| 20. |
Wikipedia article Wikipedia EN (Lipoprotein_lipase_deficiency)
|