INFORMATION ON MUCOLIPIDOSES:-

Mucolipidoses may be defined as a group of inherited metabolic diseases which affect the body’s capacity to carry out the normal function of various materials within cells. In mucolipidoses, abnormal amounts of carbohydrates or fatty materials accumulate in cells.
The Mucolipidoses can be classified as lysosomal storage diseases because they involve increased storage of substances in the lysosomes, which are specialized sac-like components within most cells.

CAUSES OF MUCOLIPIDOSES:-

The exact consequence which results in development of Mucolipidoses disease is not known yet however, researchers believe that it may be result of genetic disturbance.

SYMPTOMS OF MUCOLIPIDOSES:-

1. Mental retardation.
2. Learning difficulty.
3. Improper speech.
4. Irregular skull shape.
5. Developmental delay.

DIAGNOSIS OF MUCOLIPIDOSES:-

Clinically mucolipidoses can be diagnosed by:-

1. MRI.
2. CT scan.
3. Genetic testing.
4. Physical examination.

TREATMENT OF MUCOLIPIDOSES:-

So far there is no cure for mucolipidoses exists. Treatment is generally pointed toward treating symptoms and providing supportive care to the child. For the subjects with corneal clouding, surgical procedure is used to remove the thin layer over the eye to reduce the cloudiness in the eye. However, this improvement is only temporary. Physical and occupational therapy may help children with motor delays. Children with language delays may benefit from speech therapy.