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Pathway Description
Cholesteryl Ester Storage Disease
Homo sapiens
Disease Pathway
Created: 2013-08-29
Last Updated: 2022-11-09
Lysosomal acid lipase deficiency, also called cholesteryl ester storage disease [CESD], LIPA deficiency or Wolman disease, is a rare autosomal recessive inborn error of metabolism. It's caused by not enough lysosomal acid lipase enzyme is produced at lysosome, which act to break down the fatty material. Lysosomal acid lipase enzyme catalyzes the conversion of cholesterol and fatty acid into cholesterol ester. This disorder is characterized by a large accumulation of cholesterol in the endoplasmic reticulum (ER). Symptoms of the disorder include vomiting, diarrhea, weight loss (i.e. feeding difficulties) and swelling of the abdomen. Lysosomal acid lipase deficiency can be treated with sebelipase alfa.
References
Cholesteryl Ester Storage Disease References
[Metagen: CHOLESTERYL ESTER STORAGE DISEASE](http://metagene.de/program/d.prg?id_d=88)
[OMIM: 278000](http://omim.org/entry/278000})
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Steroid Biosynthesis References
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