Wolman disease

Wolman Disease

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Wolman disease

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Description:
Wolman Disease (also known as Wolman’s Disease, early onset LAL Deficiency, and Lysosomal acid lipase deficiency is a rare genetic disorder caused by a deficiency of an enzyme known as lysosomal acid lipase (LAL or LIPA). This enzyme is necessary to break down certain lipids inside the cells. Deficiency of the LAL/LIPA enzyme causes a build-up of fat in the liver, gut and other parts of the body. </br>
  • Wolman disease belongs to a group of diseases known as Lysosomal Storage Disorders (LSDs). </br>
    • Lysosomes function as recycling centers within cells breaking down a number of unwanted materials into substances that the cell can reuse. </br>
    • Enzymes are highly specialized proteins within lysosomes that break down or digest particular nutrients, such as certain fats and carbohydrates.</br>
    • When these enzymes are defective or missing altogether because of genetic mutations, LSDs develop as a result of abnormal build-up of material in the body's cells.</br>
  • Wolman disease is the early onset form of LAL Deficiency. </br>
    • This form of the disease typically develops during the first few weeks or month of life. </br>
    • Late onset form which is known as Cholesteryl ester storage disease (CESD) typically presents later in childhood or even adulthood. </br>


Inheritance and Diagnosis



What causes Wolman Disease? Every person has two copies of the LAL gene (sometimes known as the LIPA gene). One copy is inherited from...
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