acid lipase deficiency


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Related to acid lipase deficiency: Lipoprotein lipase deficiency

acid lipase deficiency

One of two autosomal recessive illnesses in which the body lacks an enzyme for metabolizing fats, causing cholesterol, oils, or waxes to accumulate in abnormal amounts in the body. The acid lipase diseases are Wolman disease and cholesterol ester storage disease. Synonym: acid lipase disease
Acid lipase disease.
See also: deficiency
References in periodicals archive ?
The acid [alpha]-glucosidase protein was increased in individuals with acid lipase deficiency, mucolipidosis II/III, Gaucher disease, and Niemann-Pick disease (type A/B).
Synageva) (NASDAQ:GEVA), a clinical stage biopharmaceutical company developing therapeutic products for rare diseases, today announced that the first patient initiated treatment in the ARISE trial (Acid Lipase Replacement Investigating Safety and Efficacy), a global, Phase 3, randomized, double-blind, placebo-controlled study of sebelipase alfa in children and adults with late onset lysosomal acid lipase deficiency (LAL Deficiency).
The Company has many drugs in development, including Kanuma, a drug for the treatment of lysosomal acid lipase deficiency.