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Mucolipidosis ii

mucolipidosis II

(Science: biochemistry) 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.


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