Vacuoles

1
Vacuoles
http//www.tvdsb.on.ca/westmin/science/sbi3a1/Cell
s/vacuole.htm

• Structure
• a single layer of unit membrane enclosing fluid
  in a sack
• Function
• produces turgor pressure against cell wall for
  support
• stores water and various chemicals
• may store insoluble wastes

http//www.tiscali.co.uk/reference/encyclopaedia/h
utchinson/images/c00482.jpg
2
Rimmed Vacuole Myopathy

• RVM is characterized by the presence of many
  rimmed vacuoles in muscle fibers.
• Initial Symptoms (early adulthood)
• muscular wasting
• weakness in the legs (especially the distal
  muscles)
• Advanced Symtoms (late adulthood)
• facial
• extraocular
• bulbar
• intercostal
• and diaphragm muscle sparring

3
I-cell Disease (Mucolipidosis Type II )

• I-cell disease is a rare inherited metabolic
  disorder
• Symptoms
• coarse facial features
• skeletal abnormalities
• mental retardation
• These symptoms of I-cell disease are similar to
  but more severe than those of Hurler syndrome.
  The symptoms associated with this disorder
  typically become obvious during infancy and may
  include multiple abnormalities of the skull and
  face and growth delays

4
Sources

• http//www.naika.or.jp/im2/42/10/07e.aspx
• http//brain.oupjournals.org/cgi/content/abstract/
  112/1/65
• http//www.emedicine.com/ped/topic1150.htm