WHAT IS LAL DEFICIENCY (LAL D)?

Lysosomal Acid Lipase Deficiency (LAL D) is a rare genetic disease with significant morbidity and early mortality. Specifically, LAL Deficiency is an autosomal recessive lysosomal storage disorder that is caused by a marked decrease in the activity of the LAL enzyme due to mutations affecting the LIPA gene.

LAL Deficiency presents as a clinical continuum affecting infants, children and adults. LAL D in infants was historically referred to as Wolman disease and LAL D in children in adults was historically referred to as Cholesteryl Ester Storage Disease, CESD. Significant morbidity and early mortality is often associated with the disease due to the marked decrease of LAL enzyme activity which results in the accumulation of lipid substrates in various tissues and cell types, primarily in the hepatic, gastrointestinal and cardiovascular systems. Disease progression is highly variable from patient to patient with a broad range of abnormalities, including dyslipidemia, enlargement of the liver and spleen, liver dysfunction, liver fibrosis, cirrhosis and ultimately hepatic failure as well as severe malabsorption.
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Obtain detailed clinical information about LAL Deficiency, including affected populations, signs and symptoms, diagnosis, treatment options, and more.

 

Learn more about Lysosomal Acid Lipase (LAL) Deficiency and the science behind the disease.

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News Report On LAL D In Mexico