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Niemann-Pick Disease: Management Tactics

Journal: Science Journal "NovaInfo" (Vol.146, No. 1)

Publication Date:

Authors : ;

Page : 300-301

Keywords : HEREDITY; DISEASE; NERVOUS SYSTEM; PATHOLOGY; THERAPY;

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Abstract

Niemann-Pick disease (BNP) is a rare hereditary disease that belongs to the group of lysosomal accumulation diseases. It is caused by a mutation in one of the genes responsible for the synthesis of enzymes necessary for normal lipid metabolism. As a result of disruption of these enzymes, sphingomyelin and other lipid substances accumulate in cells, which leads to damage to various organs and body systems. Niemann-Pick disease has several types, varying in severity and age of onset of the disease.

Last modified: 2025-01-18 13:56:36