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Lysosomal acid lipase deficiency in children: literature review and clinical observations
https://doi.org/10.21508/1027-4065-2026-71-3-102-111
Abstract
The enzyme lysosomal acid lipase, encoded by the LIPA gene, plays a key role in lipid metabolism in lysosomes. Mutations in the LIPA gene, of which about 120 have been registered, lead to a complete or partial absence of lysosomal acid lipase activity. This is accompanied by the accumulation of cholesterol esters and triglycerides in organs, primarily in the liver and spleen. There are two types of major phenotypic manifestations of lysosomal acid lipase deficiency: infantile lysosomal acid lipase deficiency (Wolman’s disease), and childhood/adult lysosomal acid lipase deficiency (cholesterol ester accumulation disease). The diagnosis of lysosomal acid lipase deficiency in children and adolescents should be established at an early stage of the disease, since the start of treatment affects the quality of life of patients in the long term. The article discusses both phenotypes of lysosomal acid lipase deficiency, etiology, pathogenesis, and approaches to the treatment of this disease. Clinical observations of patients with lysosomal acid lipase deficiency are also demonstrated.
About the Authors
G. V. Volynets
Veltischev Research and Clinical Institute for pediatrics and pediatric surgery of the Pirogov Russian National Research Medical University; Department of Innovative Pediatrics and Pediatric Surgery of the Institute of Continuous Education and Professional Development of Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
125412, Moscow
117997, Moscow
A. S. Potapov
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
119991, Moscow
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Review
For citations:
Volynets G.V., Potapov A.S. Lysosomal acid lipase deficiency in children: literature review and clinical observations. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2026;71(3):102-111. (In Russ.) https://doi.org/10.21508/1027-4065-2026-71-3-102-111
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