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Lysosomal storage diseases

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omranalzobaidi's version from 2015-12-04 03:52

Section 1

Question Answer
Fabry XREnz -Alpha -galactosidase A , acc sub ceramide trihexoside
GaucherGlucocerbrosidase , glucocerbrosidase
Niemann-pickSphingomyelinase , sphingomylin
Tay-sachsHexosaminidase A , GM2 ganglioside
Metachromatic leukodystrophyArylsulfate A , cerebroside sulfate
KrabbeGalactocerbrosidase , psychosine
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Section 2

Question Answer
FabryHand / fetes neuropathy, angiokeratomas, CVS & Rena, Ds
Gaucher MCHepatosplenomegaly , pancytopenia , aseptic necrosis of the femur, bone crisis, lipid laden macrophages ( crumpled tissue paper)
NiemannProgressive neuroses enervation,hepatosplenomegaly, "cherry-red" macula , foam cells ( lipid laden
Tay-sachsProg neurodegeneration , hepatosplenomegaly , macula spot, lysosomes with onions
KrabbePeri neuropathy, developmental delay, optic atrophy, globoid cells
Metachromatic leukodystrophyCentral and peripheral demyelination with ataxia and dementia
HurlerDevelopmental delay, gargoylism, airway obstruction,corneal clouding,hepatosplenomegaly.
HunterMild hurler+aggressive behavior , no hepatosplenomegaly.
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