Medical Definition of I-cell disease
1.
Mucolipidosis of early onset and with severe symptoms like those in Hurler's syndrome but with normal urinary mucopolysaccharides, vacuolated lymphocytes, and inclusion bodies in cultured fibroblasts (I-cells).
The lysosomes lack hydrolases but high concentrations of lysosomal enzymes are found in the extracellular fluids such as serum, spinal fluid, and urine.
It is associated with a deficiency of N-acetylglucosaminyl-1-phosphotransferase. The gene defect responsible probably prevents the addition of the lysosome recognition marker mannose 6 phosphate) to these enzymes so that they are not directed into the lysosomes but are released.
Inheritance: autosomal recessive.
Synonym: I-cell disease, inclusion cell disease.
(12 Jul 2000)
Lexicographical Neighbors of I-cell Disease
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