I-cell disease
I-cell disease
I-cell disease (pronounced as /aɪ-sɛl/), also known as Mucolipidosis II (pronounced as /ˌmjuːkoʊlɪpɪˈdoʊsɪs/), is a rare lysosomal storage disease that affects many areas of the body. The name "I-cell" comes from the characteristic "inclusion bodies," or abnormal deposits, found in the cells of individuals with this condition.
Etymology
The term "I-cell" is derived from the word "inclusion," referring to the inclusion bodies seen in the cells of affected individuals. The term "mucolipidosis" is derived from the words "mucopolysaccharide" and "lipid," which are the types of molecules that build up in the cells of individuals with this condition.
Symptoms
Symptoms of I-cell disease typically become apparent in infancy and may include poor growth, developmental delay, coarse facial features, skeletal abnormalities, and limited joint mobility. Affected individuals may also have an enlarged liver and spleen (hepatosplenomegaly) and heart valve abnormalities.
Causes
I-cell disease is caused by mutations in the GNPTAB gene. This gene provides instructions for making an enzyme that is involved in the breakdown of certain complex molecules in cells. Mutations in the GNPTAB gene disrupt this process, leading to the accumulation of these molecules in cells and causing the signs and symptoms of I-cell disease.
Diagnosis
Diagnosis of I-cell disease is based on the clinical symptoms, laboratory testing of blood and urine samples, and confirmed by genetic testing.
Treatment
There is currently no cure for I-cell disease. Treatment is supportive and aims to manage the symptoms. This may include physical therapy, pain management, and in some cases, surgical intervention to manage skeletal abnormalities.
Prognosis
The prognosis for individuals with I-cell disease is generally poor, with most individuals not surviving past early childhood. However, the severity of symptoms and life expectancy can vary widely.
External links
- Medical encyclopedia article on I-cell disease
- Wikipedia's article - I-cell disease
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