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
Fabry's
- most are autosomal recessive
- lives well into 30s-50s
- 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
- 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
- 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
Hurler's
- abnormal mucopolysaccharides: thick secretions
Hunter's
- x linked recessive
- no corneal clouding
- behavior problems
I-Cell
- synthesized normally, problem with processing
Pompe
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