描述
Lysosomal Acid Lipase Deficiency (Wolman disease) is caused by a defect in lysosomal acid lipase (LIPA, or LAL), otherwise known as acid cholesteryl ester hydrolase, which is coded for by a gene (LIPA) on chromosome 10. Two major disorders, the severe infantile-onset Wolman disease and the milder late-onset cholesteryl ester storage disease (CESD), may be caused by mutations in separate parts of the LIPA gene. Wolman disease is characterized by increased transaminases in serum, and increased cholesteryl esters and triglycerides in various tissues. Symptoms include anemia, diarrhea, failure to thrive, enlarged liver, malabsorption, steatorrhea and abdominal pain.