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Biochemistry
Glycogen Storage Diseases
| Question | Answer |
|---|---|
| Symptoms of Fabry’s | Peripheral neuropathy of hands/feet, angiokeratomas, CV/renal disease, reddish purple skin |
| Defective enzyme in Fabry’s | alpha-galactosidase |
| Substrate accumulated in Fabry’s | Ceramide trihexoside |
| Inheritance of Fabry’s | x-linked recessive |
| Symptoms of Gaucher’s | Hepatosplenomegaly, aseptic necrosis of the femur, bone crises, osteoperosis of long bones, Gaucher’s cells (macrophages that look liked wrinkled tissue paper) |
| Defective enzyme in Gaucher’s | beta-glucocerebrosidase |
| Accumulated substrate in Gaucher’s | glucocerebroside |
| Inheritance of Gaucher’s | autosomal recessive |
| Symptoms of Niemann-Pick | Progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula, foam cells |
| Defective enzyme in Niemann-Pick | sphingomyelinase |
| Accumulated substrate in Niemann-Pick | sphingomyelin |
| Inheritance of Niemann-Pick | autosomal recessive |
| Symptoms of Tay-Sachs | Progressive neurodegeneration, developmental delay, cherry-red spot on macula, seizures, muscle weakness, lysosomes with onion skin |
| Defective enzyme in Tay-Sachs | Hexosaminidase A |
| Accumulated substrate in Tay-Sachs | GM2 ganglioside |
| Inheritance of Tay-Sachs | autosomal recessive |
| Symptoms of Krabbe’s | Peripheral neuropathy, developmental delay, optic atrophy- blindness, deafness, globoid cells (glycolipid-laden macrophages) in white matter of brain |
| Defective enzyme in Krabbe’s | galactocerebrosidase |
| Accumulated substrate in Krabbe’s | galactocerebroside |
| Inheritance of Krabbe’s | autosomal recessive |
| Symptoms of Metachromatic leukodystrophy | central and peripheral demyelination with ataxia, dementia, nerves stain yellowish-brown with cresyl violet (metachromasia) |
| Defective enzyme in Metachromatic leukodystrophy | Arylsulfatase A |
| Accumulated substrate in Metachromatic leukodystrophy | cerebroside sulfate |
| Inheritance of Metachromatic leukodystrophy | autosomal recessive |
| Symptoms of Hurler’s | developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly |
| Defective enzyme in Hurler’s | alpha-L-iduronidase |
| Accumulated substrate in Hurler’s | Heparan sulfate, dermatan sulfate |
| Inheritance of Hurler’s | autosomal recessive |
| Symptoms of Hunter’s | Mild Hurler’s + aggressive behavior, no corneal clouding |
| Defective enzyme in Hunter’s | iduronate sulfatase |
| Accumulated substrate in Hunter’s | heparan sulfate, dermatan sulfate |
| Inheritance of Hunter’s | x-linked recessive |
| Symptoms of Tay-Sachs | Progressive neurodegeneration, developmental delay, cherry-red spot on macula, seizures, muscle weakness, lysosomes with onion skin |
| Defective enzyme in Tay-Sachs | Hexosaminidase A |
| Accumulated substrate in Tay-Sachs | GM2 ganglioside |
| Inheritance of Tay-Sachs | autosomal recessive |
| Symptoms of Krabbe’s | Peripheral neuropathy, developmental delay, optic atrophy- blindness, deafness, globoid cells (glycolipid-laden macrophages) in white matter of brain |
| Defective enzyme in Krabbe’s | galactocerebrosidase |
| Accumulated substrate in Krabbe’s | galactocerebroside |
| Inheritance of Krabbe’s | autosomal recessive |
| Symptoms of Metachromatic leukodystrophy | central and peripheral demyelination with ataxia, dementia, nerves stain yellowish-brown with cresyl violet (metachromasia) |
| Defective enzyme in Metachromatic leukodystrophy | Arylsulfatase A |
| Accumulated substrate in Metachromatic leukodystrophy | cerebroside sulfate |
| Inheritance of Metachromatic leukodystrophy | autosomal recessive |
| Symptoms of Hurler’s | developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly |
| Defective enzyme in Hurler’s | alpha-L-iduronidase |
| Accumulated substrate in Hurler’s | Heparan sulfate, dermatan sulfate |
| Inheritance of Hurler’s | autosomal recessive |
| Symptoms of Hunter’s | Mild Hurler’s + aggressive behavior, no corneal clouding |
| Defective enzyme in Hunter’s | iduronate sulfatase |
| Accumulated substrate in Hunter’s | heparan sulfate, dermatan sulfate |
| Inheritance of Hunter’s | x-linked recessive |
| Which diseases are associated with Ashkenazi Jews? | Tay-Sachs, Niemann-Pick, and Gaucher's |
| Which diseases present with a cherry-red spot on the macula? | Niemann-Pick, Tay-Sachs |
| Which diseases present with peripheral neuropathy? | Fabry's, Krabbe's |
| Which diseases present with hepatosplenomegaly? | Gaucher's, Niemann-Pick |
| Which disease is the most common? | Gaucher's |
| Which diseases present with progressive neurodegeneration? | Niemann-Pick, Tay-Sachs, Metachromatic leukodystrophy |
| Angiokeratomas | Fabry's |
| Macrophages that look liked wrinkled paper | Gaucher's |
| Foam cells | Niemann-Pick |
| Lysosomes with onion skin | Tay-Sachs |
| Globoid cells | Krabbe's |
| Nerves stain yellow-brown with cresyl violet | Metachromatic leukodystrophy |
| Gargoylism | Hurler's |
| Aggresive behavior | Hunter's |
Created by:
csevilla
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