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Wolman Disease / Cholesteryl Ester Storage Disease

Lysosomal acid lipase deficiency is a metabolic lipid storage disease. Two rare conditions may result from this deficiency (likely representing two ends of a clinical spectrum):

  • Wolman disease: The early-onset and most severe form of the disease where lipids accumulate throughout the body, mostly in the liver, within the first weeks of life. Symptoms include an enlarged liver and spleen (hepatosplenomegaly), poor weight gain, a yellowish color of the skin and the whites of the eyes (jaundice), vomiting, diarrhea, fatty stool (steatorrhea), and poor absorption of nutrients from food (malabsorption), as well as calcium deposits in adrenal glands, anemia, liver disease (cirrhosis), and developmental delay. Infants with this form of lysosomal acid lipase deficiency develop failure in multiple organs, and severe malnutrition.
  • Cholesteryl ester storage disease: Less severe and starting later in life. Symptoms may include hepatosplenomegaly, liver disease (cirrhosis), and  malabsorption with diarrhea, vomiting, and steatorrhea.

For detailed information about this disease visit : National Institutes of Health (NIH) >

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