Lysosomal acid lipase deficiency

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Lysosomal acid lipase deficiency is 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 acid lipase deficiency definition

A lysosomal acid lipase deficiency is a lysosomal storage disease caused by a defect in the gene coding for the enzyme, lysosomal acid lipase. It is one of the lysosomal storage diseases, which collectively refer to the various metabolic disorders caused by the lysosomal function defects, resulting in an abnormal accumulation of toxic materials in the cell.


Etymology

The term lysosomal acid lipase deficiency was previously known as Wolman disease, named after Israeli neuropathologist, Moshe Wolman. He and his colleagues were the first to report a case of this condition in 1956. Two disorders had been described: Wolman disease and Cholesteryl Ester Storage Disease. In 2010, both of these disorders had been collectively referred to as lysosomal acid lipase deficiency. Abbreviation: LAL deficiency, LAL-D. Synonyms: Wolman('s) disease.

Pathophysiology

Lysosomal acid lipase 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.

Inheritance and prognosis

LAL deficiency is inherited as autosomal recessive. 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.

See also

References

  1. Reiner, Ž.m, Guardamagna, O., Nair, D., Soran, H., Hovingh, K., Bertolini, S., Jones, S., Ćorić, M., Calandra, S., Hamilton, J., Eagleton, T., & Ros, E. (July 2014). "Lysosomal acid lipase deficiency – An under-recognized cause of dyslipidaemia and liver dysfunction". Atherosclerosis. 235 (1): 21–30.



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