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Pathway Description
Lysosomal Acid Lipase Deficiency (Wolman Disease)
Homo sapiens
Disease Pathway
Created: 2022-11-08
Last Updated: 2023-10-25
Lysosomal Acid Lipase Deficiency, also known as Wolman disease, is predictably enough the result of a specific defect in lysosomal acid lipase. The defect results from a mutation on the 10th chromosome to the LIPA gene. Of interest is that the nature of the particular defect to the LIPA gene can result in two major, and distinct disorders. The first and more severe is the infantile-onset Wolman disease, whereas the other less severe disorder is late-onset cholesteryl ester storage diseas, also known as CESD. These two disorders are the product of mutations to different regions 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, vomiting, failure to thrive, enlarged liver, malabsorption, steatorrhea and abdominal pain.
References
Lysosomal Acid Lipase Deficiency (Wolman Disease) References
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