Niemann-Pick Disease

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Overview:

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.

About Niemann-Pick Disease: 

  • It is a rare genetic disorder in which sphingomyelin accumulates 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.
  • Causes:
    • It is inherited in an c pattern, which means both copies of the gene must be defective to cause the disease.
    • Most often, the parents of a child with an autosomal recessive disorder are carriers: they have one copy of the altered gene, but are not affected because the other copy produces the enzyme.
    • If both parents are carriers, each pregnancy has a 25% chance of producing an affected child.
  • Symptoms
    • Enlargement of the liver and spleen (Hepatosplenomegaly)
    • Low levels of platelets in the blood(Thrombocytopenia)
    • Slurring of speech (dysarthria)
    • Difficulty in swallowing (dysphagia)
    • Abnormal posturing of the limbs, trunk, and face (dystonia).
    • Voluntary rapid eye movements (supranuclear gaze palsy).
    • Gradual loss of intellectual abilities, causing dementia and seizures
    • Classification
    • Types A and B: Mutations in the SMPD1 Gene cause types A and B.
    • They produce a deficiency in the activity of the lysosomal enzyme acid sphingomyelinase that breaks down the lipid sphingomyelin.
  • Types C: Mutations in NPC1 or NPC2 cause Niemann–Pick disease, type C (NPC), which affects a protein used to transport lipids. It is the most common form of the disease including types C1 (95% of type C) and C2.
  • Treatment: No specific treatment is known for type A and B, but symptoms are treated.

Q1) What is genetic disorder?

A genetic disorder is a medical condition caused by abnormalities or mutations in an individual's DNA or genes. These mutations can be inherited from one's parents or can occur spontaneously during a person's lifetime. Genetic disorders can affect various aspects of a person's health, including physical and mental development, organ function, and overall well-being.

Source: List Niemann-Pick as rare disease, parents of young patients urge govt