mucolipidosis IImedical 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).

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.

Synonyms: I-cell disease, inclusion cell disease.

(12 Jul 2000)