Alternative titles and symbols : Cholesteryl ester storage disease; Lipa deficiency; Lal deficiency; Cholesterol ester hydrolase deficiency; CESD;
Included titles and symbols : Wolman disease;
Description : Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman
disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset
fulminant disorder of infancy with massive infiltration of the liver, spleen, and
other organs by macrophages filled with cholesteryl esters and triglycerides. Death
occurs early in life. Wolman disease is very rare, with an incidence of less than
one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic
involvement by macrophages engorged with cholesteryl esters. This slowly progressive
visceral disease has a very wide spectrum of involvement ranging from early onset
with severe cirrhosis to later onset of more slowly progressive hepatic disease with
survival into adulthood (summary by Du et al., 2001).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the lysosomal acid lipase gene (LIPA, 613497.0001);