lysosomal disease

The last day of February which happens to be 28 February in this year is celebrated as Rare Disease Day to spread awareness about diseases which affect a very small percentage of people around the world. Though these diseases are rare, it does not mean that patients of these diseases find it any easier to fight them or face fewer problems.

In fact, the magnitude of the problem is greater since they face social pressure and abandon due to the ignorance of people about their disease. These diseases are also not easy to diagnose, as the common symptoms may hide the underlying rare disease. One such group of diseases that affects 1 in every 20 people in India, according to the Organisation for Rare Disease in India is the Lysosomal Storage Disorder. Lysosomal Storage Disorders such as Hunter syndrome, Gaucher disease, and Fabry’s disease, are the most common type of rare diseases in the country.​ 

What is Lysosomal Storage Disorder?
Lysosomal Storage Disorders are actually a group of about 50 rare diseases caused due to this disorder. They affect the Lysosome – the part of your cells that is responsible for breaking down proteins, carbohydrates, etc. so that the cells can use them.


People who suffer from this disorder are unable to produce enzymes that are required for the breakdown and therefore the cell is unable to breakdown the proteins and carbohydrates.

What are the types of Lysosomal Storage Disorder?
There are different types of the disorder since different enzymes can be affected in different people, leading to different symptoms and different effects on the body. These are the different types of Lysosomal Storage Disorders, some of them are described below:

Fabry Disease


In this disease, the body's ability to make the enzyme alpha-galactosidase A which breaks down a fatty substance which is called globotriaosylceramide.

Gaucher Disease

this disease causes an inability to produce an enzyme called glucocerebrosidase. It is responsible for breaking down a fat called glucocerebroside.

Krabbe disease


This disease leads to a lack of an enzyme called galactosylceramidase. This enzyme is responsible to maintain the protective coating around nerve cells in the nervous system, helping the nerves to communicate with each other.

Metachromatic Leukodystrophy

This disease refers to the absence of an enzyme called arylsulfatase A which helps in breaking down a group of fats called sulfatides.

Mucopolysaccharidosis

This disease affects enzymes that break down certain carbohydrates.


Niemann-Pic disease

This is a group of disorders that affect different enzymes. It is of three types – A, B, and C.

Pompe Disease

It affects an enzyme called apha-glucosidase which affects the breakdown of sugar.

Tay-Sachs Disease


This affects the enzyme Hexosaminidases A.

How does Lysosomal Storage Disorder happen?
The disorder is mostly transferred from parents to children. If both parents have the faulty gene, only then the child may have the disorder and otherwise, he/she may only be a carrier and not show any symptoms of the disorder.

What are the treatments for lysosomal storage disorder?
There isn't really a cure for the disorder but there are some treatments that can help with the symptoms of the disorder. They are:

Enzyme replacement therapy
Substrate reduction therapy
Stem cell transplant