Acid Lipase Disease


Enzymes needed to break down certain fats that are normally digested by the body is lacking or missing, resulting in the toxic buildup of these fats in the body’s cells and tissues. The fatty substances are lipids which include waxes, oils, and cholesterol.

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Pattern of Inheritance: Autosomal Recessive*

Wolman's Disease (acid lipase deficiency)

Marked by the buildup of cholesteryl esters* and triglycerides, it is an autosomal recessive disorder.
An infant born with Acid Lipase Disease will appear normal at first but suffer through:
  • progressive mental deterioration
  • low muscle tone
  • jaundice
  • anemia
  • vomiting
  • malnourishment
  • gastrointestinal problems
  • calcium deposits in adrenal glands
Infants usually pass by age 1

Cholesteryl Ester Storage Disease (CESD)

an extremely rare disorder, CESD results from storage of cholesteryl esters and triglycerides* in blood cells and lymphoid tissue. It is far less severe than Wolman's Disease and has a later onset. In most cases, CESD is not diagnosed until adulthood.
Children develop:
  • enlarged liver
    • cirrhosis and liver failure
  • calcium deposits in adrenal glands
  • jaundice


Enzyme replacement therapy is being investigated while other drugs may help to combat symptoms with each branch of disease.

Helpful Hints

*Autosomal Recessive: two copies of the abnormal gene must have been present in order for the disease to manifest and develop.
*Cholesteryl Esters: originally a transport form of cholesterol bringing nutrients into cells and carries out waste
*Triglycerides: chemical form where fats exist within the body