Lysosomal Storage Diseases

Front 1

Fabrys

Back 1

peripheral neuropathy of hands/feet; angiokeratomas, CV/renal dz
def in alpha-galactosidase A
accumulation of ceramide trihexoside

Front 2

Gauchers

Back 2

most common
hepatosplenomeg, aseptic necrosis of femur, bone crises, Gaucher's cells (macrophages)
def in b-glucocerbrosidase
accumulation of glucocerebroside

Front 3

Neimann Pick

Back 3

progressive neurodegeneration, hepatosplenomeg, cherry red spot on macula
def in sphingomyelinase
accumulation of sphingomyelin

Front 4

Tay Sachs

Back 4

progressive neurodegen, developmental delay, cherry red spot, lysozymes with onion skin
def in hexoaminidase A
accumulation of GM2 ganglioside

Front 5

Krabbes

Back 5

peripheral neuropathy, developmental delay, optic atrophy
def in b-galactosidase
accumulation of galactocerebroside

Front 6

metachromatic leukodystrophy

Back 6

central and peripheral demyelination with ataxia, dementia
def in arylsufatase A
accumulation of cerebroside sulfate

Front 7

Hurlers

Back 7

developmental delays, gargolyism, airway obstruction, corneal clouding, hepatosplenomeg
def in a-L-iduornidase
accumulation heparan sulfate, dermatan sulfate

Front 8

Hunter

Back 8

mild Hurlers plus aggressive behavior, no corneal clouding
def in iduronate sulfatase
accumulation of heparan sulfate, dermatan sulfate

Front 9

X linked lysosomal storage diseases

Back 9

Hunters and Fabrys

Front 10

early death

Back 10

Tay Sachs, Neimann pick, Crabbe

Front 11

I cell disease

Back 11

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

Front 12

more common among ashkenzi jews

Back 12

tay sachs

Front 13

crinkled paper cytoplasm

Back 13

gauchers