Lysosomal disorders.txt

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

*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

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

*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

defect in sphingomyelinasem accumulation of sphingomyelin in brain and RBS--> "foam cells" cherry red spot, mental retardation, spasticity, seizures, hepatosplenomegaly * ashkenzai jews

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

iduronic sulfatase, Heparan sulfate and dermatan sulfate, no corneal clouding

• alpha iduronase Heparan sulfate and dermatan sulfate, corneal clouding
• Morqoi's A
• galactose-6-sulfatase, keratan sulfate

B-galactosidase, kertan sulfate