Wolman's Disease
Overview
A lysosomal storage disorder, Wolman's disease results in large amounts of lipids (particularly cholesteryl esters and glycerides) to accumulate in the liver, spleen, lymph nodes and other tissues.
Symptoms
Symptoms include enlargement of the liver and spleen, an excessive amount of fat in the stools, distention of the abdomen and adrenal calcification that appears in the first weeks of life.
Causes and Risk FactorsThis is a genetic disorder caused by mutations of a specific gene.
Diagnosis
The presence of Wolman's disease is diagnosed by the symptoms and by cultures that identify the enzyme deficiency.
Treatment
There is currently no cure or specific treatment for Wolman's disease. Death usually occurs by the age of six months.
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