Lysosomal storage dz Flashcards
Peripheral neuropathy of hands and feet, angiokeratomas, CARDIOVASCULAR AND RENAL DISEASE
Fabrys
Deficient enzyme of Fabrys
alpha-galactosidase A
Accumulated substrate of Fabrys
Ceramide trihexoside
X linked Lysosomal Storage diseases
Fabry’s
Hunter’s syndrome
(the rest are autosomal recessive)
Most common
Gaucher’s disease
Hepatosplenomegaly, aseptic necrosis of femur, bone crises, macrophages that look like cumpled tissue paper
Gaucher
Deficient enzyme of Gaucher
Glucocerbrosidase
Accumulated substrate of Gaucher
Glucocerbroside
Progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula, foam cells
Niemann-Pick disease
Deficient enzyme of Niemann-Pick
Sphingomyelinase
Accumulated substrate of Niemann Pick
Sphingomyelin
Progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosomes with onion skin
Tay-Sachs
Deficient enzyme of Tay-Sachs
Hexosaminidase A
Accumulated substrate of Tay-Sachs
GM2 ganglioside
Peipheral neuropathy, developmental delay, optic atrophy, globoid cells
Krabbe’s
Deficient enzyme of Krabbe’s
Galactocerebrosidase
Accumulated substrate of Krabbe’s
Galactocerebrosidase
Central and peripheral demyelination with ataxia, dementia
Metachromatic leukodystrophy
Deficient enzyme of Metachromatic leukodystrophy
Arylsulfatase A
Accumulated substrate of metachromatic leukodystrophy
Cerebroside sulfate
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
Hurler’s syndrome
Deficient enzyme of Hurler’s
alpha-L-iduronidase
Accumulated substrate of Hurler’s
heparan sulfate, dermatan sulfate
Developmental delay, gargoylism, airway obstruction, aggressive behavior, hepatosplenomegaly
Hunter’s
Deficient enzyme of Hunter’s
Iduronate sulfatase
Accumlated substrate of Hunter’s
Heparan sulfate, dermatan sulfate
