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The Diagnosis and Treatment of Niekmann Pick Disease (NPD)
* 1 , 1 , 2 , 1
1  Anurag Group of institutions
2  Anurag Group of Instituitions


Niekmann-Pick disease (NPD) is an lipid storage disorder called as Sphingnomyllinase. The NPD has highly prevalent in worldwide according to recent epidemiology the populations of NPD 20,099 in the year 2016 for major markets covering US, EU5 (Germany, Spain, France, Italy) and Japan. It is an group of disorders with two different classes;(1) Acid sphingomyelinase deficient Niekmann–Pick disease (ASM-deficient NPD) resulting from mutations in the SMPD1 gene and encompassing type A and type B as well as intermediate forms; (2) Niekmann–Pick disease type C (NP-C) including also type D, resulting from mutations in either the NPC1 or the NPC2 gene. For type A and B, levels of sphingomylinase can be measured from a blood sample. To diagnose type C, a skin sample can help determine whether the transporter is affected. diagnose for NPD as there is no effective available for type A. Type B can be cured by for Bone marrow transplantation. A newly approved drug Miglustat (glucosylcermide synthase inhibitor) has approved for type C and also Hydroxy-propyl beta-cyclodextrin (HpbcD) as potential treatment for NPD. Individuals with NPD type C and type D are frequently placed on low cholesterol diet & cholesterol lowering drugs. The present review describes the diagnosis, treatment, symptoms and number of patients suffered in the Asia countries have presented.

Keywords: Niekmann-Pick disease (NPD,epidemiology,diagnose, Treatment