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

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