alexa Niemann- Pick disease | China | PDF | PPT| Case Reports | Symptoms | Treatment

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Niemann- Pick Disease

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  • Niemann- Pick disease

    Niemann-Pick Disease is one of a group of lysosomal storage diseases that affect metabolism and that are caused by genetic mutations. The three most commonly recognized forms are Niemann-Pick Types A and B (ASMD or Acid Sphingomyelinase Deficiency) and Niemann-Pick Disease Type C (NPC).Niemann- Pick disease Type A and B occur due to the deficiency of an enzyme called acid sphingomyelinase (ASM). This enzyme is required for breaking down sphingomyelin, which is a product of fat metabolism. The lack of ASM leads to the collection of sphingomyelin or cholesterol in the body. Niemann-Pick disease Type C arises due to a defect in cholesterol and glycolipid transport mechanisms. According to another classification, Niemann-Pick disease is classified into two types: Niemann-Pick disease, SMPD1-associated (which includes Type A and Type B disease), and Niemann-Pick disease, Type C.

  • Niemann- Pick disease

    Several treatment options, including bone marrow transplants, enzyme replacement therapy, and gene therapy have been used. Research is ongoing to determine the effectiveness of such treatments. A medication called miglustat is currently used to treat type C. Miglustat is classified as an enzyme inhibitor, and works by preventing the body from producing fatty substances (in the case of type C, cholesterol) so that less of it will build up in the body. And there is no treatment for type A and D.It causes Abdominal (belly area) swelling within 3 to 6 months, Seizures, Unsteady gait, clumsiness, walking problems, Difficulty moving limbs, Jaundice at birth. Results of a survey shows the extrapolation of Prevalence Rate of Niemann-Pick disease type C2 in China is 8,658 for the estimated total population of 12,98,84,76,242.Niemann-Pick Type C is a genetic, cholesterol storage disorder that primarily strikes children with death occurring before or during adolescence. There is also an adult onset form of the disease.

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