|mucolipidosis II||medical dictionary|
<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).
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.
(12 Jul 2000)
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