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Lysosomal acid lipase (LAL) deficiency is a hereditary, genetic, chronic, and progressive disease, caused by decreased activity of this enzyme. LAL is found inside lysosomes, cytoplasmic cellular organelles that have the ability to degrade particles, recycle aged cellular components and defend the organism against external agents, participating in the process of cellular autophagy.
The function of LAL is to break down certain lipids (esterified cholesterol and triglycerides), and the lack of sufficient activity causes a progressive accumulation of these fats in the liver, intestines and blood vessel walls.
Hoffman et al. describe that the phenotypic spectrum of ALL deficiency varies from the initial form in childhood (Wolman's disease) to the later forms, collectively known as cholesterol ester storage disease (CESD). The authors characterize Wolman's disease by malabsorption that results in malnutrition, in the storage of cholesterol esters and triglycerides in hepatic macrophages that can lead to hepatomegaly and liver disease; and, in calcification of the adrenal gland causing adrenal cortical insufficiency. Unless treated with hematopoietic stem cell transplantation, babies with classical Wolman's disease do not survive beyond the age of one year.
CESD can manifest serum lipid abnormalities, hepatosplenomegaly and / or elevated liver enzymes long before diagnosis. CESD morbidity results from atherosclerosis (coronary artery disease, stroke), liver disease (altered liver function, jaundice, steatosis, fibrosis, cirrhosis and related complications of esophageal varices and / or liver failure) and complications of secondary hypersplenism (anemia , thrombocytopenia). People with this disease may have a normal life, depending on the severity of the manifestations of the disease.
LAL deficiency is suspected in patients with characteristic clinical findings, such as hepatomegaly, elevated transaminases and a typical serum lipid profile that includes elevated serum concentrations of total cholesterol, low density lipoproteins (LDL) and triglycerides; and, reduced in high density lipoproteins (HDL). The diagnosis is confirmed by the identification of biallelic pathogenic variants encoded by the LIPA gene (located in 10q23.31) or by the determination of the deficiency of LAL enzyme activity (in peripheral blood leukocytes, fibroblasts or in drops of dried blood on filter paper) .
LAL deficiency is a progressive disease that causes damage to the liver, spleen and other organs, potentially leading to liver fibrosis, cirrhosis, liver failure and death. Correct diagnosis is the first step in controlling the serious and even fatal long-term complications of this disease.
In its portfolio, Biotécnica has kits for determining transaminases, cholesterol, triglycerides, HDL-Cholesterol and LDL-Cholesterol, with ready-to-use reagents, controls and calibrators. It also has a line of equipment with several options for automation in biochemistry and turbidimetry.
Enrique Juan Brown
BioTécnica Ind. E Com. Ltda
+55 (35) 3214-4646
|Hoffman EP, Barr ML, Giovanni MA, et al. Lysosomal Acid Lipase Deficiency. 2015 Jul 30 [Updated 2016 Sep 1]. In: Adam MP, Ardinger HH, Pagon RA, et al., Editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.|
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