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12 Cards in this Set
- Front
- Back
Name the findings and deficient enzyme for VON GIERKE'S DISEASE
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A Glycogen Storage Disease
1. Hepatomegaly, sever fasting hypoglycemia, ↑↑ liver glycogen, ↑ blood lactate 2. Glucose-6-Phosphatase |
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Name the findings and deficient enzyme for POMPE'S DISEASE
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A Glycogen Storage Disease
1. Cardiomegaly and early death 2. Lysosomal alpha 1,4 glucosidase (acid maltase) |
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Name the findings and deficient enzyme for CORI'S DISEASE
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A Glycogen Storage Disease
1. Mild form of Von Gierke's (Hepatomegaly, sever fasting hypoglycemia, ↑↑ liver glycogen) without the ↑ blood lactate 2. alpha 1,6 glucosidase (debranching enzyme) |
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Name the findings and deficient enzyme for McARDLE'S DISEASE
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A Glycogen Storage Disease
1. ↑ glycogen in mm but can't break it down (painful mm cramps, myoglobinuria with strenuous exercise) 2. Skeletal mm glycogen phosphorylase |
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Name the findings and deficient enzyme for FABRY'S DISEASE
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A Sphingolipidoses (X-rec)
1. Peripheral neuropathy, angiokeratomas, CV & renal disease 2. Lacks alpha-galactosidase-A so Ceramide trihexoside buids up |
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Name the findings and deficient enzyme for GAUCHER'S DISEASE
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A Sphingolipidoses (most common, AR)
1. crumpled tissue paper macrophages, hepatosplenomegaly, ascepti femur necrosis 2. lacks Beta-glucocerebrosidase so glucocerebroside builds up |
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Name the findings and deficient enzyme for NIEMANN-PICK DISEASE
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A Sphingolipidoses (AR)
1. Cherry red macula spot, foam cells, hepatosplenomegaly 2. Lacks sphingomyelinase, so sphingomyelin builds up |
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Name the findings and deficient enzyme for TAY-SACHS DISEASE
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A Sphingolipidoses (AR)
1. Cherry red macula spot, onion skinning lysosomes, developmental delay and prog neurodegeneration 2. lacks Hexosaminidase A, so GM2 ganglioside builds up |
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Name the findings and deficient enzyme for KRABBE'S DISEASE
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A Sphingolipidoses (AR)
1. Optic atrophy, globoid cells, peripheral neuropathy, developmental delay 2. Lacks Galactocerebrosidase, so galactocerebroside builds up |
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Name the findings and deficient enzyme for METACHROMATIC LEUKODYSTROPHY
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A Sphingolipidoses (AR)
1. Cent/periph demyelination with ataxia and dementia 2. Lacks Arylsulfatase A so cerebroside sulfate builds up |
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Name the findings and deficient enzyme for HURLER'S SYNDROME
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A Mucopolysaccharidoses (AR)
1. Corneal clouding, airway obstruction, gargoylism, developmental delay, hepatosplenomegaly 2. Lacks Alpha-L-iduronidase so heparan/dermatan sulfate accumulate |
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Name the findings and deficient enzyme for HUNTER'S SYNDROME
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A Mucopolysaccharidoses (XRec)
1. Mild for of hurler's with AGRESSIVE behavior and no corneal clouding 2. Lacks iduronate sulfatase so heparan/dermatan sulfate accumulate |