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Niemann- Pick Disease

  • Niemann- Pick disease

    Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition.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

    Bone marrow transplants have been done on a few patients with type B with encouraging results. Researchers continue to study possible treatments, including enzyme replacement and gene therapy. There is no specific treatment for type D. A new medicine called miglustat is available for the nervous system symptoms of type C. A healthy, low-cholesterol diet is recommended. However, research does not show that these methods stop the disease from getting worse or change how cells break down cholesterol. However, medicines are available to control or relieve many symptoms, such as sudden loss of muscle tone and seizures.An inter- and intra-assay coefficient of variance (CV) was determined as the average value taken from all the enzymes analyzed. Descriptive statistics were performed using the IBM SPSS Statistic 19 software provided by SPSS Inc. (Special Package for the Social Sciences, Chicago, USA). A nonparametric Shapiro-Wilk test was used to evaluate the distribution of control groups and a Mann-Whitney test was used to determine the difference between the populations under study. The cutoff between the enzymatic activities of controls and patients was established using ROC (Receiver Operating Characteristics) curves with the same program.There is current research aiming to develop recombinant human acid sphingomyelinase for the potential treatment of NP disease types A and B. A phase 1 clinical trial was completed in 2009. A phase 2 trial is planned.

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