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
Last updated
