About NPD

Niemann-Pick disease refers to a group of rare, inherited disorders that affect the body's ability to metabolize lipids (fats) within cells. These disorders are caused by genetic mutations that result in the deficiency of certain enzymes, leading to the accumulation of lipids in various organs and tissues.

There are three main types of Niemann-Pick disease, each associated with a different enzyme deficiency:

Niemann-Pick disease is inherited in an autosomal recessive manner, meaning that an individual must inherit two mutated copies of the responsible gene (one from each parent) to develop the disease. Carriers, who have one normal copy and one mutated copy of the gene, typically do not show symptoms but can pass the mutated gene to their children.

Due to its rarity and the wide spectrum of symptoms, diagnosis and management of Niemann-Pick disease often involve a multidisciplinary approach, including genetic testing, neurological evaluations, and supportive care. Treatment for NPD A/ B include Enzyme Replacement Therapy. Research and trials are underway for treatment of NPD C type,



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