Niemann-Pick Disease

Table of Contents☰

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