See Also: Herbal medicine (botanical medicine, herbology, phytomedicine)(health)
mucolipidosis II(medicine)
Mucolipidosis(medicine)
mucolipidosis I(medicine)
mucolipidosis IV(medicine)
mucolipidosis III(medicine)
Medicine Lodge Memorial Hospital- Medicine Lodge(health)
Orthomolecular medicine (orthomolecular nutritional medicine, orthomolecular therapy)(health)
medicine man(encyclopedia)
medicine(dictionary)

mucolipidosis II (medicine)


mucolipidosis II
<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.