Prep for USMLEPrep for USMLE
         Forum      |     Resources New Posts   |   Register   |   Login


Post Reply  
  • 0/5
  • 1
  • 2
  • 3
  • 4
  • 5

Author5 Posts

What happens in I-cell disease?


It's the disease of empty lysosomes.

When the digestive enzymes for lysosomes are being processed in Golgi, lack of phosphotransferase won't make phosphorilation of mannose on these enzymes possible. So, these digestive enzymes, instead of going to lysosomes are excreted from the cell and they will travel wild around our body smiling face


also ,the Multiple enzyme deficiencies associated with I-cell disease lead to the accumulation of certain fatty substances (mucolipids) and certain complex carbohydrates (mucopolysaccharides) within the cells of many tissues of the body- :arrow: the characteristic finding is abnormal vacuolization or inclusions that appear in the cytoplasm of cells of mesenchymal origin, especially fibroblasts.
The symptoms of I-cell disease are similar to but more severe than those of Hurler syndrome :arrow: coarse facial features, skeletal abnormalities and mental retardation.


8) good explanation thanks


in the process i get to learn too smiling face

Bookmark and Share

This thread is closed, so you cannot post a reply.

Login or Register to post messages

show Similar forum topics

OB-Gyn Q1
path q1
anatomy q1
show Related resources

Advertise | Support | Premium | Contact