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Niemann Pick disease pertain to a grouping of severe and inherited metabolic disorders . In this type of disease , sphingomyelin accumulates within lysosomes in human cell . The lysosomes principally transport materials from and to the cell . The disease involves sphingolipids ’ dysfunctional metamorphosis i.e. the fatness found within the cell membranes . Because of this , doctor call it a specific type of sphingolipidosis . Because of this , sphingolipidosis belong to the category of lysosomal computer storage problems.(1 )
What Leads To Niemann Pick Disease?
Type A and Type B Niemann Pick Disease
Type A and type B of the disease take place whenever ASM i.e. acid sphingomyelinase fails to produce properly within the white rakehell cell . ASM name to an enzyme , which helps in the removal of fats developed in each of the body ’s cells . The fat called Sphingomyelin may build up within the cells whenever ASM fails to break off it down properly . The build - up of sphingomyelin thus leads to the death of cells and improper functioning of organs.(2 )
Niemann Pick disease of type A and case B take billet because of mutations within the SMPD1 factor . The gene gives the necessary instructions to produce an enzyme referred as acid sphingomyelinase . The enzyme remains present within lysosomes i.e. the cell compartments , which break down and recycle large number of molecules .
Acid sphingomyelinase converts the sphingomyelin fat into ceramide i.e. another case of productive / lipid . However , SMPD1 mutations result in the scarceness of acid sphingomyelinase leading to break off down of sphingomyelin , which cause the adipose tissue to accumulate within the cellular phone . Other than this , the mentioned fat buildup leads to malfunctioning of cells and eventually cause death . With clock time , cadre exit causes constipation in social function of consistency organs and tissues , which let in the lung , mentality , liver , and short temper in type A and type B Niemann Pick patients.(3 )
Type C and Type D Niemann Pick Disease
character C of Niemann Pick disease is the inability of the patient ’s trunk to remove the excessive amount of cholesterol and other lipids expeditiously . When the cholesterol fails to breakdown by rights , it build up within the liver and spleen , while the excessive amounts of other fatty tissue may cumulate within the encephalon . eccentric D on the other side assume place whenever the consistence fails to move the cholesterol between the brain cell in good order . In some cases , doctors view it as a variant of the type C Niemann Pick disease.(2 )
familial mutations in either of NPC1 and NPC2 gene causes type C Niemann Pick disease . The proteins formed from each of the gene are responsible for the lipoid ’ movement within cell . Mutations in any of these genes result in the scarcity of functional protein and thereby , restrict the movement of lipids and cholesterol . The situation thus conduct to the accumulation of cholesterin within cells . As the mentioned lipids do not stay in their appropriate locations within the cells , they make harm of most of the steady cell functions requiring lipids . Lipids ’ accruement and the disfunction of cells eventually leave in cells ’ death and in turn , severe electric organ , and tissue damages.(3 )
Can We Cure Niemann Pick Disease?
handling and remedy of Niemann Pick disease reckon on its specific character , according to which-
eccentric A : Type A Niemann Pick disease does not have any treatment . or else , patient require supportive care to manage their conditions .
Type B : Type B Niemann Pick disease cure involves different intervention alternative , such as enzyme replacement therapy , ivory marrowtransplants , and factor therapy .
Type C : Type coke patient role are capable to manage their condition , especially mobility problem withphysical therapy . Besides , doctor recommend for medicine or an enzyme inhibitor called miglustat to treat / cure character C. The inhibitor works by avoiding your body to bring out any fatty substance so that less fatty buildup convey place within the body.(4 )
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