Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Combined lipase deficiency

Combined lipase deficiency is an autosomal recessive disorder characterized by massively elevated Triglycerides which is caused by mutations of the LMF1 gene.

Systematic

Hypertriglyceridemia
APOA5
APOE
Combined lipase deficiency
LMF1
GPIHBP1
LIPC
LIPE
LPL
Plasma triglyceride level quantitative trait locus
Transient infantile hypertriglyceridemia

References:

1.

Davis RC et al. (1990) Combined lipase deficiency in the mouse. Evidence of impaired lipase processing and secretion.

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2.

Paterniti JR et al. (1983) Combined lipase deficiency (cld): a lethal mutation on chromosome 17 of the mouse.

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3.

Péterfy M et al. (2007) Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia.

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4.

Cefalù AB et al. (2009) Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia.

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5.

Breckenridge WC et al. (1982) Lipoprotein abnormalities associated with a familial deficiency of hepatic lipase.

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6.

OMIM.ORG article

Omim 246650 [^]
Update: April 29, 2019