See Also: I-cell disease(medicine)
Sickle-cell disease(health)
inclusion cell disease(medicine)
Sickle Cell Disease(health)
sickle cell disease(medicine)
sickle cell C disease(medicine)
Disease, sickle cell(health)
sickle cell-thalassaemia disease(medicine)
Herbal medicine (botanical medicine, herbology, phytomedicine)(health)
Medicine Lodge Memorial Hospital- Medicine Lodge(health)

I-cell disease (medicine)


I-cell disease -->
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.