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About The Niemann-Pick Disease


Recently, parents of children suffering from Niemann-Pick disease have urged the Union government to notify the ailment under the National Policy for Rare Diseases.


GS II: Health

Dimensions of the Article:

  1. Niemann-Pick Disease Overview
  2. Causes
  3. Symptoms
  4. Classification
  5. Treatment

Niemann-Pick Disease Overview:

  • Niemann-Pick Disease is a rare genetic disorder characterized by the accumulation of sphingomyelin in lysosomes within cells, which results in dysfunctional metabolism of sphingolipids.
  • The disease encompasses three primary recognized forms: Niemann-Pick Types A, B, and C.
  • Affected areas of the body include the brain, nerves, liver, spleen, bone marrow, and, in severe cases, lungs.
  • Symptoms are related to the progressive loss of nerve and brain function, impacting various organs.
  • While it can occur at any age, it mainly affects children.


  • Niemann-Pick Disease is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be defective to cause the disease.
  • In most cases, parents of an affected child are carriers, having one copy of the altered gene but not displaying symptoms due to the presence of a functional copy.
  • If both parents are carriers, each pregnancy has a 25% chance of producing an affected child.


  • Common symptoms include enlargement of the liver and spleen (Hepatosplenomegaly), low blood platelet levels (Thrombocytopenia), slurred speech (dysarthria), difficulty in swallowing (dysphagia), abnormal posturing of limbs, trunk, and face (dystonia), voluntary rapid eye movements (supranuclear gaze palsy), and a gradual loss of intellectual abilities, leading to dementia and seizures.


  • Types A and B: These are caused by mutations in the SMPD1 Gene, resulting in a deficiency of the lysosomal enzyme acid sphingomyelinase, which normally breaks down the lipid sphingomyelin.
  • Type C: Niemann-Pick disease, type C (NPC), is caused by mutations in NPC1 or NPC2 genes, impacting proteins used to transport lipids. It is further classified into C1 (95% of type C cases) and C2.


  • There is no specific treatment known for Niemann-Pick Types A and B. However, the focus is on managing symptoms to improve the quality of life for affected individuals.

-Source: Times of India

December 2023