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32 Cards in this Set
- Front
- Back
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glucose-6-phophsphatase
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glycogen
Von Gierke's (I) |
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severe fasting hypoglycemia, high lactate, hepatomegaly, glycogen in the liver
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glycogen
Von Gierke's (I) |
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lysosomal alpha 1,4 glucosidase
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glycogen
pompe's (II) |
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cardiomegaly and early death
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glycogen
pompe's (II) |
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alpha 1, 6 glucosidase debranching enzyme
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glycogen
cori's (III) |
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hypoglycemia, normal lactate, gluconeogenesis intact
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glycogen
cori's (III) |
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increased glycogen in muscle but can't break down= painful muscle cramps, myoglobinuria with strenuous exercise
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glycogen
mcardle's (IV) |
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skeletal muscle phosphorylase
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glycogen
mcardle's (IV) |
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peripheral neuropathy of hands and feet, angiokeratomas, cv and renal disease
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sphingolipidosis
fabry's |
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alpha glactosidase A
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sphingolipidosis
fabry's |
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accumulation of ceramide trihexoside
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sphingolipidosis
fabry's |
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HSM, aseptic necrosis of femur
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sphingolipidosis
gaucher's |
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macrophages that look like crumpled tissue paper
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sphingolipidosis
gaucher's |
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def of glucocerebrosidase
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sphingolipidosis
gaucher's |
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accumulation of glucocerebroside
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sphingolipidosis
gaucher's |
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progressive neurodegeneration, HSM, cherry red spot on macula, foam cells
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sphingolipidosis
niemann-pick |
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def of sphingomyelinase
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sphingolipidosis
niemann-pick |
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build up of sphingomyelin
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sphingolipidosis
niemann-pick |
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progressive neurodegeneration, developmental delay, cherry red spot, lysosomes with onion skin, no HSM
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sphingolipidosis
tay-sachs |
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def of hexosaminidase A
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sphingolipidosis
tay-sachs |
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accumulation of GM2 galnglioside
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sphingolipidosis
tay-sachs |
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peripheral neuropathy, developmental delay, optic atrophy, globoid cells
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sphingolipidosis
krabbe's |
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def of beta-galactocerebrosidase
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sphingolipidosis
krabbe's |
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accumulation of galactocerebroside
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sphingolipidosis
krabbe's |
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central and peripheral demyelination with ataxia and dementia
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sphingolipidosis
metachromatic leukodystrophy |
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def of arylsulfatase A
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sphingolipidosis
metachromatic leukodystrophy |
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build up of cerbroside sulfate
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sphingolipidosis
metachromatic leukodystrophy |
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developmetnal delay, gargoylism, airway obstruction, corneal clouding, HSM
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mucopolysacaridosis
Hurler's |
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aggressive behavior, mild DD< gargoylism, no corneal clouding
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mucopolysacaridosis
Hunters |
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build up of heparan sulfate, dermatan sulfate
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hunters and hurlers
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def of alpha-L- iduronidase
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mucopolysacaridosis
Hurler's |
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def of iduronate sulfatase
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mucopolysacaridosis
Hunters |
