Combined lipase deficiency is an autosomal recessive disorder characterized by massively elevated Triglycerides which is caused by mutations of the LMF1 gene.
Hypertriglyceridemia | ||||
APOA5 | ||||
APOE | ||||
Combined lipase deficiency | ||||
LMF1 | ||||
GPIHBP1 | ||||
LIPC | ||||
LIPE | ||||
LPL | ||||
Plasma triglyceride level quantitative trait locus | ||||
Transient infantile hypertriglyceridemia | ||||
1. |
Davis RC et al. (1990) Combined lipase deficiency in the mouse. Evidence of impaired lipase processing and secretion. |
2. |
Paterniti JR et al. (1983) Combined lipase deficiency (cld): a lethal mutation on chromosome 17 of the mouse. |
3. |
Péterfy M et al. (2007) Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia. |
4. |
Cefalù AB et al. (2009) Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia. |
5. |
Breckenridge WC et al. (1982) Lipoprotein abnormalities associated with a familial deficiency of hepatic lipase. |
6. |
OMIM.ORG article Omim 246650 |