I Cell Disease, also known as Mucolipidosis II, is a rare genetic disorder characterized by a metabolic dysfunction that affects multiple organ systems in the body. It is classified as a lysosomal storage disorder, as the condition is caused by a deficiency in the enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-PT), which is responsible for directing the proper trafficking of proteins within the cell.
Individuals with I Cell Disease exhibit a wide range of symptoms, including skeletal abnormalities, developmental delays, intellectual disability, and facial dysmorphism. Other common features include coarse facial features, growth retardation, recurrent infections, and progressive joint stiffness. Moreover, affected individuals may experience abdominal distension, hernias, and difficulty breathing due to lung and airway involvement.
The onset of I Cell Disease typically occurs in early infancy, with symptoms gradually worsening over time. The prognosis for individuals with this condition is generally poor, as it often leads to severe disabilities and a decreased life expectancy. Treatment options are limited and primarily focus on managing the symptoms to improve quality of life. This may include physical therapy, nutritional support, and various surgical interventions.
The name "I Cell Disease" is derived from the fact that cells from affected individuals exhibit an accumulation of dense inclusion bodies, known as "inclusion cells," within their lysosomes when observed under a microscope. This accumulation is a key diagnostic feature of the disorder.
