INFORMATION ON MUCOPOLYSACCHARIDOSES:-

Mucopolysaccharidosis may be defined as a group of inherited diseases that are caused by the accumulation of mucopolysaccharides, resulting in problems with a subject’s development.
Mucopolysaccharides are long chains of sugar molecules that are essential for building the bones, cartilage, skin, tendons, and other tissues in the body.

CAUSES OF MUCOPOLYSACCHARIDOSES:-

The main consequence which leads to Mucopolysaccharidosis is deficiency of one of the enzymes which carries mutation and involved in breaking down GAG’s

SYMPTOMS OF MUCOPOLYSACCHARIDOSES:-

1. Developmental delay.
2. Behavioral problems.
3. Thick lips.
4. Enlarged mouth and tongue.
5. Enlarged organs such as liver or spleen.
6. Joint stiffness.

DIAGNOSIS OF MUCOPOLYSACCHARIDOSES:-

Clinically Mucopolysaccharidosis can be diagnosed by:-

1. Physical examination.
2. Gene testing.
3. DNA analysis.
4. Chorionic villus sampling (CVS).

TREATMENT OF MUCOPOLYSACCHARIDOSES:-

So far there is no cure for Mucopolysaccharidosis. There are several types of experimental therapies that are being investigated. Typically, treatment of Mucopolysaccharidosis involves trying to relieve some of the symptoms. For Mucopolysaccharidosis, bone marrow transplantation can be opted as a treatment option.