Lysomal Storage Disorder

Lysosomal acid lipase deficiency

The lysosomal enzyme acid lipase (LAL) - or Wolman Disease and Cholesteryl Ester Storage Disease (CESD) - has the function to release cholesterol from cholesteryl esters and triglycerides; therefore a defect of this enzyme leads to the accumulation of these lipids in several tissues organs, predominatly in the liver and vessels. Two main clinical phenotypes are caused by an acid lipase deficiency: Wolman disease and Cholesteryl Ester disease. Wolman disease is a rapidly progressive disorder, characterized by severe failure to thrive, diarrhoea, vomiting and hepatosplenomegaly, leading to death at the age of 6-8 months from cachexia. Cholesteryl ester storage disease (CESD) represents the more attenuated phenotype of LAL deficiency with a wide spectrum of clinical presentation. Clinical signs include liver enlargement, short stature, gastrointestinal bleeding and chronic abdominal pain. Some patients live to adulthood with unpredictable course, other die in their juvenile years due to failure of liver function or myocardial infarction.

Lysosomal acid lipase deficiency | SphinCS - Clinical Science for LSD

Current Studies

The "U.S. National Library of Medicine" provides a complete list of all international studies at www.clinicaltrials.gov. The comparable EU website is less comprehensive: www.clinicaltrialsregister.eu.

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Literature

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