THE DISEASE IS THE ACCUMULATION OF CHOLESTEROL ESTERS DUE TO DEFICIT OF LYSOSOMAL ACID LIPASE. CLINICAL CASE OF LYSOSOMAL ACID LIPASE DEFICIENCY IS DESCRIBED IN THIS ARTICLE
https://doi.org/10.21518/2079-701X-2018-2-238-241
Abstract
Lysosomal acid lipase deficiency (LAL D) is an orphan disease connected with accumulation of cholesterol estersin different organs, interest to this disease increased due to the possibility of enzyme replacement therapy. The article presents a clinical case of verification of LAL D in a child 5 years of age.
About the Authors
S. A. Loskutova
Novosibirsk state medical University
Russian Federation
Russian Federation
MD
T. V. Belousova
Novosibirsk state medical University
Russian Federation
Russian Federation
MD, Prof.
A. B. Nikulina
Novosibirsk state medical University
Russian Federation
Russian Federation
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Review
For citations:
Loskutova SA, Belousova TV, Nikulina AB. THE DISEASE IS THE ACCUMULATION OF CHOLESTEROL ESTERS DUE TO DEFICIT OF LYSOSOMAL ACID LIPASE. CLINICAL CASE OF LYSOSOMAL ACID LIPASE DEFICIENCY IS DESCRIBED IN THIS ARTICLE. Meditsinskiy sovet = Medical Council. 2018;(2):238-241. (In Russ.) https://doi.org/10.21518/2079-701X-2018-2-238-241
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