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