Lysosomal acid lipase deficiency
A type of lysosomal storage disease that is often caused by a deficiency in lysosomal acid lipase resulting in the accumulation of fatty material in various body organs, such as liver, spleen, gut, and endothelium
Lysosomal storage disease is a collective term for the various metabolic disorders due to defects in lysosomal function resulting in an abnormal accumulation of toxic materials in the cell. One of them is lysosomal acid lipase deficiency.
A lysosomal acid lipase deficiency (LAL deficiency) is a lysosomal storage disease caused by a defect in the gene coding for the enzyme, lysosomal acid lipase. This enzyme is important in breaking down fatty material (such as cholesterol esters and triglycerides). Without enough level of this enzyme, these fatty materials accumulate in the lysosomes in the cells of various organs, such as liver, spleen, gut and endothelium. This leads to serious health problems especially in the early childhood years. It is a rare, familial xanthomatosis that causes death early in infancy. It may lead to adrenal calcification, diffuse, punctate calcifications throughout, enlarged, normally shaped adrenals, and hepatosplenomegaly.
LAL deficiency is heritable. It has an autosomal recessive pattern of inheritance. This means an individual with two copies of defective LAL gene (each from the two parents) would have the disease and show severe symptoms. For instance, LAL deficiency in infants leads to the accumulation of fat in the gut walls and this could result in malabsorption and other serious digestive problems. The child becomes malnourished and would not reach the ideal weight range. The condition may worsen as the disease progresses such that it could lead to liver dysfunction or failure, which can be fatal.
- LAL deficiency
- Wolman disease