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What Leads To Niemann Pick Disease & Can It Be Cured?

Niemann Pick disease refers to a group of severe and inherited metabolic disorders. In this type of disease, sphingomyelin accumulates within lysosomes in human cells. The lysosomes mainly transport materials from and to the cell. The disease involves sphingolipids’ dysfunctional metabolism i.e. the fats found within the cell membranes. Because of this, doctors call it a specific type of sphingolipidosis. Because of this, sphingolipidosis belongs to the category of lysosomal storage problems.(1)

What Leads To Niemann Pick Disease & Can It Be Cured?

What Leads To Niemann Pick Disease?

Type A and Type B Niemann Pick Disease

Problem Takes Place Due To Sphingomyelin Fat

Type A and type B of the disease take place whenever ASM i.e. acid sphingomyelinase fails to produce properly within the white blood cells. ASM refers 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 it down properly. The build-up of sphingomyelin thus leads to the death of cells and improper functioning of organs.(2)

Problem Due To Genetic Mutations

Niemann Pick disease of type A and type B takes place because of mutations within the SMPD1 gene. 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 numbers of molecules.

Acid sphingomyelinase converts the sphingomyelin fat into ceramide i.e. another type of fat/lipid. However, SMPD1 mutations result in the scarcity of acid sphingomyelinase leading to break down of sphingomyelin, which causes the fat to accumulate within the cells. Other than this, the mentioned fat buildup leads to malfunctioning of cells and eventually cause death. With time, cell loss causes impairment in functions of body organs and tissues, which include the lungs, brain, liver, and spleen in type A and type B Niemann Pick patients.(3)

Type C and Type D Niemann Pick Disease

Problem Due To Excessive Cholesterol And Other Lipids

Type C of Niemann Pick disease is the inability of the patient’s body to remove the excessive amount of cholesterol and other lipids efficiently. When the cholesterol fails to breakdown properly, it builds up within the liver and spleen, while the excessive amounts of other fat may accumulate within the brain. Type D on the other side takes place whenever the body fails to move the cholesterol between the brain cells properly. In some cases, doctors consider it as a variant of the type C Niemann Pick disease.(2)

Problem Due To Genetic Mutations

Genetic mutations in either of NPC1 and NPC2 gene causes type C Niemann Pick disease. The proteins formed from each of the genes are responsible for the lipids’ movement within cells. 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 leads to the accumulation of cholesterol within cells. As the mentioned lipids do not stay in their appropriate locations within the cells, they cause impairment of most of the regular cell functions requiring lipids. Lipids’ accumulation and the dysfunction of cells eventually result in cells’ death and in turn, severe organ, and tissue damages.(3)

Can We Cure Niemann Pick Disease?

Treatment and cure of Niemann Pick disease depends on its specific type, according to which-

Type A: Type A Niemann Pick disease does not have any treatment. Instead, patients require supportive care to manage their conditions.

Type B: Type B Niemann Pick disease cure involves different treatment options, such as enzyme replacement therapy, bone marrow transplants, and gene therapy.

Type C: Type C patients are able to manage their conditions, especially mobility problems with physical therapy. Besides, doctors recommend for medicine or an enzyme inhibitor called miglustat to treat/cure type C. The inhibitor works by avoiding your body to produce any fatty substance so that less fat buildup takes place within the body.(4)


Also Read:

Sheetal DeCaria, M.D.
Sheetal DeCaria, M.D.
Written, Edited or Reviewed By: Sheetal DeCaria, M.D. This article does not provide medical advice. See disclaimer
Last Modified On:October 14, 2019

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