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13 Cards in this Set
- Front
- Back
- 3rd side (hint)
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peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease
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Fabry's
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alpha galatosidase A
ceramide trihexoside XR |
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hepatosplenomegaly, aseptic necrosis of femur, bone crises, macrophages look like crumpled tissue paper
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Gaucher's disease (MC)
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beta glucocerebrosidase
glucocerebroside AR |
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progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells
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niemann-pick disease
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sphingomyelinase
Sphingomyelin AR |
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progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosomes with onion skin
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Tay Sachs
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hexosaminidase A
GM2 ganglioside AR |
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peripheral neuropathy, developmental delay, optic atrophy, globoid cells
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Krabbe's
(globoid cell leukodystrophy) |
galactocerebrosidase
galactocerebroside AR |
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central and peripheral demyelination with ataxia, dementia
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metachromatic leukodystrophy
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arylsulfatase A
cerebroside sulfate AR |
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developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
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Hurler's
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alpha-L iduronidase
Heparan sulfate, dermatan sulfate AR |
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Mild Hurler's + aggressive behavior, NO corneal clouding
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Hunter's
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iduronate sulfatase
Heparan sulfate, dermatan sulfate XR |
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severe fasting hypoglycemia, glycogen in liver, increased blood lactate, hepatomegaly
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Von Gierke's (type I)
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glucose-6-phosphate
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cardiomegaly and systemic findings (liver, muscle) leading to early death
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Pompe's (type II)
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lysosomal alpha-1,4-glucosidase (acid maltase)
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milder form type I with normal blood lactate levels, accumulation abnormal glycogen
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Cori's (type III)
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debranching enzyme (alpha-1,6-glucosidase)
"short outer branches" gluconeogenesis intact |
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increased glycogen in muscle, cannot break it down, painful muscle cramps, myoglobinuria with strenuous exercise
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McArdle's (type V)
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skeletal muscle glycogen phosphorylase
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mild fasting hypoglycemia, hepatomegaly, cirrhosis
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Hers (type VI)
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hepatic glycogen phosphorylase
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