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Niemann-Pick Disease

Niemann-Pick Disease:

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

  • Niemann-Pick Disease is a rare genetic disorder in which sphingomyelin accumulate in lysosomes inside cells.
  • This disease involves dysfunctional metabolism of sphingolipids.
  • The three most commonly recognized forms are Niemann-Pick Types A and B and Type C.
  • This disease can affect the brain, nerves, liver, spleen, bone marrow and, in severe cases, lungs.
  • People with this condition experience symptoms related to progressive loss of function of nerves, the brain and other organs.
  • It can occur at any age but mainly affects children.
  • It is inherited in an autosomal recessive pattern, which means both copies of the gene, must be defective to cause the disease.