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30 Cards in this Set
- Front
- Back
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Enzyme affected in Fabry disease |
a-galactosidase A |
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Enzyme affected in gaucher disease |
Glucocerebrosidase |
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Enzyme affected in Neimann pick disease |
Sphingomyelinase |
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Enzyme affected in Tay sachs disease |
Hexosaminidase A |
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Enzyme affected in Krabbe disease |
Galactocerebrosidase |
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Enzyme affected in metachromatic leukodystrophy |
Arylsulfatase A |
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Storage product in Fabry disease |
Ceramide trihexoside |
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Storage product in Gaucher disease |
Glucocerebroside |
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Storage product in Neiman Pick disease |
Sphingomyelin |
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Storage product in Tay Sach disease |
GM 2 ganglioside |
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Storage product in Krabbe disease |
Galactocerebroside Psychosine |
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Storage product in metachromatic leukodystrophy |
Cerebroside sulfate |
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Enzyme affected in Von Gierke disease |
Glucose 6 phosphatase |
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Enzyme affected in pompe disease |
Lysosomal a-1,4-glucosidase |
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Enzyme affected in cori disease |
Debranching enzyme i.e a-1,6-glucosidase |
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Enzyme affected in Mcardle disease |
Muscle glycogen phosphorylase i.e. myophosphorylase |
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Key findings in Von Gierke disease |
Severe fasting hypoglycemia because gluconeogenesis is also affected Increased blood lactate Increased uric acid leading to gout Increased triglycerides |
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Key findings in pompe disease |
Cardiomegaly Hypertrophic cardiomyopathy Exercise intolerance |
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Key findings in Cori disease |
Limit dextrin like substances accumulate in the cytosol Same as von gierke but: Normal lactic acid levels Gluconeogenesis is not affected |
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Key findings in McArdle disease |
Muscle cramps Myoglobinuria Arrhythmias Exercise intolerance |
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Double triad found in Fabry disease Late findings |
Episodic peripheral neuropathy Angiokeratomas Hypohidrosis Neuropathy Lack of sweating Capillary lesions Progressive renal failure, CVS disease |
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Key findings in Gaucher disease |
Hepatosplenomegal Osteoporosis Aseptic necrosis of femur Bone crises Panytopenia |
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Key findings in Niemann pick disease |
Hepatosplenomegaly Progressive neurodegeneration Cherry red spot on macula Foam cells |
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Key findings in Tay Sach disease |
Progressive neurodegeneration Cherry red spot Lysosomes with onion skin |
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Key findings in Krabbe disease |
Peripheral neuropathy Developmental delay Optic atrophy Globoid cells |
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Key findings in metachromatic leukodystrophy |
Central and peripheral demyelination Ataxia Dementia |
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Enzymes deficient in hurler syndrome and hunter syndrome |
a-L iduronidase-----> Hurler Iduronate sulfatase-----> Hunter |
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Accumulated substrate in Hurler and Hunter disease |
Heparan sulfate Dermatan sulfate |
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Differences between hunter and hurler disease |
Corneal clouding in Hurler disease Hurler is AR while hunter is XLR |
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Describe gaucher cells |
They are lipid laden macrophages resembling crumpled tissue paper |
