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Lysosomal storage diseases

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capahusi's version from 2016-02-20 02:54

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 ,no hepatosplenomegaly vs NP, 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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