USMLE

I-Cell Disease

31,547 views
Lysosomal Storage Diseases
  1. Krabbe Disease
  2. Hurler and Hunter Syndromes
  3. Fabry Disease
  4. Tay-Sachs and Niemann-Pick
  5. Gaucher Disease
  6. Metachromatic Leukodystrophy
  7. I-Cell Disease

I-Cell Disease, also called inclusion cell disease, is an inherited lysosomal storage disorder in which the Golgi fails to phosphorylate mannose residues.

The lack of mannose-6-phosphate (M6P) causes lysosomal enzymes to be secreted extracellularly instead of being delivered to lysosomes. This causes problems in two ways: first, lysosomal enzymes are found at high levels in the bloodstream, and these destructive enzymes can in turn damage tissues. Second, the function of lysosomes is impaired without the necessary enzymes, so substances usually degraded in the lysosomes instead build up inside cells.

Clinical manifestations of the disease include claw hand deformity, joint stiffness, kyphoscoliosis, clouded cornea, coarse facies, and gingival hyperplasia.

Find this I-Cell Disease mnemonic and more Lysosomal Storage Diseases mnemonics among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.