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Niemann Pick Disease – An Overview

Apr 07, 2017

Niemann Pick Disease – An Overview

Neimann-Pick disease is a hereditary disease i.e. it is inherited by a person from his family. It causes accumulation of lipids in the cells of different organs of the body most common being the spleen, the liver and the brain. It is classified as a lipid storage disorder due to its tendency to cause lipid accumulation. Neimann-Pick disease is caused due to the deficiency of a particular enzyme in the body, known as acid sphingomyelinase which is a lysosomal enzyme, an enzyme that is responsible for the breakdown of a lipid sphingomyelin. This deficiency of the enzyme in the body is caused due to a mutation in a gene.

Neimann-Pick disease can be classified into three categories on the basis of its causes and the symptoms that are seen in the patient. The three types of the disease are Type A, Type B and Type C. Type A and Type B Neimann-Pick diseases are caused due to the complete lack of the lysosomal enzyme, sphingomyelinase. Type C Neimann-Pick disease is caused due to the inability of the body to breakdown lipids causing over-accumulation of lipids.

The symptoms exhibited by the patients suffering from Neimann-Pick disease vary from person to person and not all the symptoms are seen in every person. Symptoms start appearing in a baby almost in the first month after birth. Some common symptoms seen are:

  • Swollen abdomen or stomach
  • Appearance of red spots on the retina
  • Loss of appetite or inability to feed
  • Loss of motor skills
  • Imbalance
  • Enlarged spleen
  • Enlarged liver
  • Jaundice
  • Seizures
  • Loss of muscle
  • Tremors
  • Difficulty in the movement of eyes

Exact known treatment for Neimann-Pick disease is currently not available. Symptomatic treatments are available which focus on suppressing and reducing the intensity of the symptoms exhibited by the person suffering from the disease. The most common treatment executed to is to keep the cholesterol and the lipid levels in the body of the patient under control.

Disclaimer: The information given in this write-up is purely for educating the reader. It is not meant to be a substitute for any advice from a medical expert.

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