I-cell disease is a rare genetic disorder that impairs lysosomes, causing waste to build up inside cells and disrupt vital processes. It causes physical and developmental problems, and there is no cure. It is inherited in an autosomal recessive pattern, and most cases cause physical defects apparent at birth. Doctors diagnose it through physical exams and genetic blood tests, and treatment strategies are focused on improving patients’ quality of life.
Inclusion cell (i-cell) disease is a very rare genetic disorder that can cause a variety of birth defects and early developmental problems. Defective genes impair the function of lysosomes, cellular components essential for the disposal of waste materials. Without functioning lysosomes, waste builds up inside cells and disrupts other vital processes. Most children with I-cell disease suffer from malformed bones and muscles, short stature, motor movement problems, and mental retardation. There is no cure for the disorder, and therapeutic efforts are primarily focused on trying to improve the quality of life of young patients.
I-cell disease is inherited in an autosomal recessive pattern. For a child to develop the condition, both of his or her parents must have mutated copies of the gene responsible for making lysosomal enzymes. Dysfunctional or missing enzymes prevent lysosomes from breaking down waste products and excreting them from cell bodies. As a result, some cell types fail to develop and function properly. Bones, muscles, and connective tissues are most affected in I-cell disease.
Most cases of I-cell disease cause physical defects that are immediately apparent at birth. Newborns typically have a high forehead, flat nose, and large, protruding gums. Bone development is significantly impaired, leading to stiff joints, crooked spines, and deformities in the hands and feet. Young children with the disorder are often very short and have little or no muscle tone. There may be additional deformities in the heart and lungs that can lead to life-threatening complications.
I-cell disease causes major developmental delays in most cases. In addition to physical problems, children are often severely mentally impaired. They may not be able to learn the language, develop good judgment or control their emotions. Patients usually need to be cared for around the clock throughout their lives; parents or caregivers are responsible for feeding, clothing and bathing them.
Doctors can usually diagnose I-cell disease based on physical exams and genetic blood tests. There is no known cure for the disease, and medications usually have little or no effect on improving symptoms. Physical therapy and surgical correction of major organ and bone deformities may be able to help prolong patients’ lives. In most cases, however, the complications of the disease lead to mortality before the age of ten. Ongoing genetic research hopes to uncover more facts about the disease and develop better treatment strategies in the near future.
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