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).
Manisha Balwani will present 38-week data from the Phase I/II extension study of sebelipase alfa in adults with late onset lysosomal acid lipase deficiency (LAL Deficiency).
Lysosomal Acid Lipase Deficiency is a rare, autosomal recessive lysosomal storage disorder (LSD) that is caused by a marked decrease in LAL enzyme activity.