Lysosomal Storage Diseases

  • vacuum cleaners of the cell

  • child born without enzymes

Sphingosines

  • most diseases are ceramide derivative, all contain sphingosine, and are all sphingolipids

  • hepatosplenomegaly

Fabry's

  • most are autosomal recessive
  • lives well into 30s-50s

  • biggest problem, pain

  • later
  • restrictive cardiomyopathy

  • accumulate in vascular endothelial cells

Gaucher

  • liver/spleen affected: macrophages live here
  • avascular necrosis: ischemia of joints (large macrophages filled with sphingolipids obstruct vessels supplying joints)

  • similar path with sickle cell: abnormal large cells clog up vasculatures

  • minimal CNS
  • normal lifespan from enzyme replacement

Niemann-Pick

  • CNS symptoms more often than Gaucher

  • macrophages

  • central artery occlusion: never in children

  • liver/spleen not part of Tay Sack disease

Krabbe

  • present very young
  • only neuro, no liver, spleen

Gangliosides

  • family of sphingolipids, gangliosides related
  • neuro deficits

Tay Sach

  • eventually vegetative state and death

Metachromatic Leukodystrophy

  • similar to Krabbe because both related to myelin
  • sofa, falling, sulfatides

  • sulfatides take up different colors
  • similar symptoms with Krabbe

  • Fabry and Gaucher: no weakness, both have enzyme replacement therapy, long life span
  • Krabbe, Tay Sach: present as baby

Glycosaminoglycans

  • repeating sets of 2 sugar molecules

  • both contain L-iduronate

Hurler's

  • abnormal mucopolysaccharides: thick secretions

Hunter's

  • x linked recessive
  • no corneal clouding
  • behavior problems

I-Cell

  • accumulation of both

  • synthesized normally, problem with processing

Pompe