I-Cell Diasease
ConditionsDiseases List
I-Cell Disease/Mucolipidosis II
Improper sending of organelle enzymes outside the cell
Fundamentals:
- LOCALIZATION: Defects in lysosomal enzyme targeting
- Significant def in GLCNac-1-phosphotrasferase
LOC:
Causes:
1)Genetic:
- Autosomal recessive
- Frameshift/chain termination mutations in the GNPTAB gene
2)Pathogenic:
3)Biochemical:
- Deficiency of GLCNAc-1-phosphotrasferase
4)Anatomical:
Route Of Transmission ROT:
Pathogenesis:
1)Genetic:
2)Pathogenic:
3)Biochemical:
- Enzyme is unable to properly transfer GLCNac-Phosphate to a high mannose oligosaccharide of proteins - absent Mannose Phosphorylation
- Golgi apparatus sends lysosomal enzymes outside cell instead of the lysosome
- Meaning the cell miscommunicated the address label of the enzyme
- Accumulation of glycoproteins and glycolipids without a means to hydrolize them = PROBLEM
4)Anatomical:
- Lysosomal hydrolaes are sent to the blood
- Denatured by the pH of the blood = enzymes become harmless
Symptoms:
- Dense inclusion bodies (I-Cells)
- High levels of lysosomal enzymes in plasma and other body fluids
- Severe psychomotor retardation
- Skeletal abnormalities
- Coarse facial features
- Restricted joint movement
- Present at birth and progress until death (5-8 yo)
Diagnosis:
Treatment:
Prevention:
Additional Information:
