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.
