The deficiency of lysosomal acid lipase (DLAL) is a rare disease caused by a congenital error of lipid metabolism, which is characterized by the deposit of cholesterol esters and triglycerides in the body. Clinically the disease begins in the perinatal period but in adults develops chronic liver disease and may have premature cardiovascular disease. The new method of diagnosis is based in the determination of the enzymatic activity of LAL in dried blood spots for screening programs. The DLAL treatment had consisted in the use of support measures, which do not prevent its progression. Although last years, in USA has appeared a new enzyme substitution treatment that has been associated with significant improvements in lipid and liver parameters, with increased survival in infants with rapidly progressive disease.
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