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13 Cards in this Set

  • Front
  • Back
peripheral neuropathy of hands/feet; angiokeratomas, CV/renal dz
def in alpha-galactosidase A
accumulation of ceramide trihexoside
most common
hepatosplenomeg, aseptic necrosis of femur, bone crises, Gaucher's cells (macrophages)
def in b-glucocerbrosidase
accumulation of glucocerebroside
Neimann Pick
progressive neurodegeneration, hepatosplenomeg, cherry red spot on macula
def in sphingomyelinase
accumulation of sphingomyelin
Tay Sachs
progressive neurodegen, developmental delay, cherry red spot, lysozymes with onion skin
def in hexoaminidase A
accumulation of GM2 ganglioside
peripheral neuropathy, developmental delay, optic atrophy
def in b-galactosidase
accumulation of galactocerebroside
metachromatic leukodystrophy
central and peripheral demyelination with ataxia, dementia
def in arylsufatase A
accumulation of cerebroside sulfate
developmental delays, gargolyism, airway obstruction, corneal clouding, hepatosplenomeg
def in a-L-iduornidase
accumulation heparan sulfate, dermatan sulfate
mild Hurlers plus aggressive behavior, no corneal clouding
def in iduronate sulfatase
accumulation of heparan sulfate, dermatan sulfate
X linked lysosomal storage diseases
Hunters and Fabrys
early death
Tay Sachs, Neimann pick, Crabbe
I cell disease
def in mannose phosphorylation, no M6P to target lysosomal proteins --> secretion of of cell instead of into lysomes
death by age 8
see corenal clouding, course facies, HSM, skeletal abnl, restricted joint movement, MR
more common among ashkenzi jews
tay sachs
crinkled paper cytoplasm