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
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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).
Determination of acid [alpha]-glucosidase protein: evaluation as a screening marker for pompe disease and other lysosomal storage disorders
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).
Synageva BioPharma[TM] Highlights Data Presentations at the 9th Annual Lysosomal Disease Network (LDN) WORLD Symposium
Lysosomal Acid Lipase Deficiency is a rare, autosomal recessive lysosomal storage disorder (LSD) that is caused by a marked decrease in LAL enzyme activity.
Synageva BioPharma Announces Closing of Public Offering and Exercise of Option to Purchase Additional Shares

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