Cholesteryl ester storage disease is a rare autosomal recessive lysosomal storage disease that results from storage of cholesteryl esters and triglycerides in cells in the blood and lymph and lymphoid tissue. This build up occurs because lysosomal acid lipase, the essential enzyme to break down triglycerides and cholesteryl esters in lysosomes, is deficient.
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- Cholesteryl ester storage disease is a rare autosomal recessive lysosomal storage disease that results from storage of cholesteryl esters and triglycerides in cells in the blood and lymph and lymphoid tissue. This build up occurs because lysosomal acid lipase, the essential enzyme to break down triglycerides and cholesteryl esters in lysosomes, is deficient. Although there is a build up of both triglycerides and cholesteryl esters in cholesteryl ester storage disease, there is a greater accumulation of cholesteryl esters than triglycerides. Children with cholesteryl ester storage disease develop an enlarged liver leading to cirrhosis and chronic liver failure before adulthood. Severe premature atherosclerosis, or the hardening of the arteries, may also develop. Children may also have calcium deposits in the adrenal glands and jaundice may also develop late in the disorder. Elevated levels of serum Low Density Lipoprotein (LDL) are also seen.
- Die Cholesterinester-Speicherkrankheit, CESD, ist eine äußerst seltene autosomal-rezessiv vererbte lysosomale Speicherkrankheit.
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- Cholesteryl ester storage disease is a rare autosomal recessive lysosomal storage disease that results from storage of cholesteryl esters and triglycerides in cells in the blood and lymph and lymphoid tissue. This build up occurs because lysosomal acid lipase, the essential enzyme to break down triglycerides and cholesteryl esters in lysosomes, is deficient.
- Die Cholesterinester-Speicherkrankheit, CESD, ist eine äußerst seltene autosomal-rezessiv vererbte lysosomale Speicherkrankheit.
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- Cholesteryl ester storage disease
- Cholesterinester-Speicherkrankheit
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