Matches in DBpedia 2015-10 for { ?s ?p "Wolman disease (also known as Wolman’s disease or early onset 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. Wolman disease belongs to a group of diseases known as lysosomal storage disorders (LSDs). Lysosomes function as recycling centers within cells breaking down a number of unwanted materials into substances that the cell can reuse. Enzymes are highly specialized proteins within lysosomes that break down or digest particular nutrients, such as certain fats and carbohydrates. 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. Wolman disease is the early onset form of LAL Deficiency. This form of the disease typically develops during the first few weeks or month of life. Late onset form which is known as Cholesteryl ester storage disease (CESD) typically presents later in childhood or even adulthood."@en }
Showing triples 1 to 1 of
1
with 100 triples per page.
- Wolman_disease abstract "Wolman disease (also known as Wolman’s disease or early onset 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. Wolman disease belongs to a group of diseases known as lysosomal storage disorders (LSDs). Lysosomes function as recycling centers within cells breaking down a number of unwanted materials into substances that the cell can reuse. Enzymes are highly specialized proteins within lysosomes that break down or digest particular nutrients, such as certain fats and carbohydrates. 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. Wolman disease is the early onset form of LAL Deficiency. This form of the disease typically develops during the first few weeks or month of life. Late onset form which is known as Cholesteryl ester storage disease (CESD) typically presents later in childhood or even adulthood.".