DLCL (Lysosomal acid lipase deficiency)
Lysosomal acid lipase deficiency (DLCL) is a disease that arises from a mutation of the LIPA gene encoding lysosomal acid lipase - an enzyme responsible for cholesterol metabolism.
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1 case per 35 thousand newborns
As of 2017, the disease is diagnosed in patients of different ages, but mainly in children under 12 years old. In Russia, DLKL occurs on average in one in 40-30 thousand live newborns, depending on the factors of ethnicity and [1]
Consequences of the disease
Lysosomal acid lipase deficiency leads to accumulation of cholesterol esters and triglycerides in the liver, spleen, blood vessel walls and other tissues and organs. A specific symptom of DLCL is liver enlargement of a non-infectious nature.
"DLKL is a life-threatening disease that can lead to serious complications, including early strokes and heart attacks," said Vera Aleksandrovna Greshnyakova, head of the research department of viral hepatitis and liver diseases at the FMBA Children's Clinical Research Center of Russia, St. Petersburg, in April 2025. - Timely prescribed pathogenetic enzyme replacement therapy not only saves lives, but also allows patients to lead a normal lifestyle - study and work, travel. It can significantly reduce the risk of disability and other complications. "
Notes
- ↑ territory. T.V. Strokov, M.E. Bagaev, I.A. Matinyan, lysosomal acid lipase deficiency. BC. 2017; 19:1346-1351..
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