I Cell Disease, also known as Mucolipidosis II, is a rare, inherited metabolic disorder that affects the body's ability to break down and use certain lipids and proteins. It is caused by a deficiency of the enzyme alpha-L-iduronidase, which is responsible for breaking down certain complex carbohydrates. Symptoms of I Cell Disease include skeletal abnormalities, mental retardation, and vision and hearing problems.

The symptoms of I Cell Disease vary from person to person, but can include:

-Delayed growth and development

-Facial abnormalities, such as a flattened face, wide-set eyes, and a small jaw

-Enlarged liver and spleen

-Joint Stiffness and deformities

-Seizures

-Hearing and vision problems

-Difficulty swallowing

-Difficulty speaking

-Cognitive impairment

-Behavioral problems

-Frequent infections

-Heart defects

-Kidney problems

I Cell Disease is caused by a genetic mutation in the GNPTAB gene, which is responsible for the production of an enzyme called Glucosamine-6-Phosphate N-Acetyltransferase. This enzyme is responsible for the breakdown of certain proteins in the body, and when it is not functioning properly, it can lead to the accumulation of certain proteins in the cells, resulting in I Cell Disease.

The treatments for I Cell Disease vary depending on the individual and the severity of the condition. Generally, treatments may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and medications to help manage symptoms. In some cases, a bone marrow transplant may be recommended. Other treatments may include dietary modifications, enzyme replacement therapy, and gene therapy.

1. Genetic mutation: I Cell Disease is caused by a mutation in the gene that codes for lysosomal alpha-mannosidase.

2. Family history: I Cell Disease is an inherited disorder, so having a family history of the disease increases the risk of developing it.

3. Age: I Cell Disease is most commonly diagnosed in infants and young children.

Unfortunately, there is no cure for I Cell Disease. However, there are medications and treatments available to help manage the symptoms and slow the progression of the disease. These include enzyme replacement therapy, physical therapy, occupational therapy, speech therapy, and nutritional support.