Cholesterol ester storage disease is an autosomal recessive disorder caused by mutations of the LIPA gene. It is a lysosomal storage disease which is characterized by accumulation of cholesterol esters. Clinical symptoms include hyperlipemia, elevated liver enzymes, hepatosplenomegaly and accelerated arteriosclerosis.
For therapy Kanuma® (sebelipase alfa) is available.
Hyperlipemia | ||||
Chylomicronemia | ||||
Familial combined Hyperlipemia | ||||
Hypercholesterolemia | ||||
Hypertriglyceridemia | ||||
Lysosomal acid lipase deficiency | ||||
LIPA | ||||
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30. |
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34. |
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36. |
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OMIM.ORG article Omim 278000 |
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Orphanet article Orphanet ID 275761 |
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Wikipedia article Wikipedia EN (Lysosomal_acid_lipase_deficiency) |