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Lysosomal storage disorders
Result in a mutation in the chain responsible for degrading gangliosides (glycolipids), act through GM1 Tay Sach, Karbbes, Gaucher, Neimann Pick, Fabry's--- al related to
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Tay Sachs
*seen most often, deficient hexosaminidase A, accumulation of GM2 ganglioside substrate in tissue and nerve cells, cherry red spots in their eyes, unsteady gait *difference in TS and NP is hepatosplenomegaly, increased incidence in Ashkenai Jews
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Krabbe's disease
deficienct in galactorcerebrosidase (mutation of GALC gene), accmulation of unmetabolized lipids, affects's nerves myelin sheath, peripheral neuropathy, developmental delay, generally fatal before age 2
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Gaucher's disease
*most common, MISSING THE ENZYME glucocerebrosidase, accumulation of glucocerebrosides, the last step before removal of the final sugar from ceramide hepatosplenomegaly and neurogenerative disease and skeletal deterioration *developed exogenous B-glucosidase to successfully target lysosomes of macrophages using mannose receptor
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Neimann Pick syndrome
defect in sphingomyelinasem accumulation of sphingomyelin in brain and RBS--> "foam cells" cherry red spot, mental retardation, spasticity, seizures, hepatosplenomegaly * ashkenzai jews
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Fabry's disease
deficeint in alpha-galactose A accumulation of ceramide or alpha-galactosidase A *proteinuria, vertigo, small red raised bumps of scrotum (angiokeratoma), peripheral neuropathy * X-linked recessive trait, treatable with recombinant enzyme therapy alpha-galactose A
- Mucopolysaccharidoses Enzyme Proteoglycan accumulation
- Hunter's, Hurler's, Morqoi's, *Diagnosed by GAG chains in the urine, Products are secreted in urine
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Hunter's
iduronic sulfatase, Heparan sulfate and dermatan sulfate, no corneal clouding
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Hunter's
- alpha iduronase Heparan sulfate and dermatan sulfate, corneal clouding
- Morqoi's A
- galactose-6-sulfatase, keratan sulfate
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Morqoi's B,
B-galactosidase, kertan sulfate
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