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

Source: The post is based on the article “List Niemann-Pick as rare disease, parents of young patients urge govt” published in “TOI” on 20th October 2023

What is the News?

Parents of children suffering from Niemann-Pick disease have urged the Government of India to notify this disease under the National Policy for Rare Diseases.

This would enable eligible patients to receive financial support from the government and access Xenpozyme, an expensive enzyme replacement therapy used for treatment.

What is Niemann-Pick disease?

Source: TOI

Niemann-Pick disease is a group of rare and inherited metabolic disorders that affect the body’s ability to process lipids or fats properly.

This buildup of lipids can lead to a wide range of symptoms including liver and spleen enlargement, lung problems, neurological issues, and other complications.

Caused by: Niemann-Pick is caused by mutations in specific genes related to how the body metabolizes fat (cholesterol and lipids). 

– The Niemann-Pick gene mutations are passed from parents to children in a pattern called autosomal recessive inheritance. 

– This means that both the mother and the father must pass on the defective form of the gene for the child to be affected.

Types of Niemann-Pick disease:

– Type A is the most severe form and typically presents itself in infancy or early childhood. 

– Type B is less severe than Type A and typically presents in childhood or adolescence.

– Type C is a rare form that typically presents in adolescence or adulthood.

Treatment: There is currently no cure for Niemann-Pick disease.