lysosomal acid lipase; cholesterol ester hydrolase
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Pathology
- deficiency results in lysosomal acid lipase deficiency (cholesterol ester storage disease)
Pharmacology
- recombinant lysosomal acid lipase sebelipase alfa (Kanuma) FDA approved to treat lysosomal acid lipase deficiency[1]
Laboratory
More general terms
More specific terms
- lysosomal acid lipase-A (acid cholesterol ester hydrolase, LIPA)
- lysosomal acid lipase-B (cholesterol ester hydrolase-B)
- lysosomal acid lipase-C (cholesterol ester hydrolase-C)
References
- ↑ 1.0 1.1 OMIM https://mirror.omim.org/entry/278000
- ↑ Medscape Oncology. Dec 8, 2015 FDA OKs First Drug (Kanuma) for Rare Enzyme Disease http://www.medscape.com/viewarticle/855617