Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
26 Cards in this Set
- Front
- Back
2 lysosomal storage diseases with X-linked inheritance? |
Fabry's
Hunter's |
|
Progressive neurodegeneration, hepatosplenomegaly,
cherry-red spot on macula, foam cells. Disease? |
Niemann-Pick disease
|
|
Deficient enzyme in Niemann-Pick disease?
|
Sphingomyelinase
--> Sphingomyelin builds up |
|
Peripheral neuropathy of hands and feet, angiokeratomas, CV disease. Disease?
|
Fabry's disease
|
|
alpha-galactosidase A is deficient in what disease?
|
Fabry's disease
|
|
Beta-galactocerebrosidase is deficient in what disease?
|
Krabbe's disease
|
|
Arulsulfatase A is deficient in what disease?
|
Metachromatic leukodystrophy
|
|
Hepatosplenomegaly
Aseptic necrosis of femur Bone crises Macrophages that look like crumpled paper. Disease? |
Gaucher's disease
|
|
Characteristics of Krabbe's disease?
|
Peripheral neuropathy
Developmental delay Optic atrophy Globoid cells |
|
Buildup in Metachromatic leukodystrophy?
|
Cerebroside sulfate
|
|
2 lysosomal storage diseases with hepatosplenomegaly?
|
Gaucher's
Niemann-Pick |
|
2 lysosomal storage diseases with cherry red spot on macula?
|
Niemann-Pick
Tay-Sachs |
|
Glucocerebroside vs Galactocerebroside buildup?
|
Glucocerebrosides in Gaucher's
Galactocerebrosides in Krabbe's |
|
Lysosomal storage disease with central and peripheral demyelination with ataxia, dementia?
|
Metachromatic leukodystrophy
(Arylsulfatase A deficiency) |
|
Enzyme deficient in Hurler's?
|
alpha-L-iduronidase
|
|
Buildup in Hurler's?
|
Heparan sulfate, dermatan sulfate
|
|
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly. Disease?
|
Hurler's syndrome
(alpha-L-iduronidase deficiency) |
|
Hurler's vs Hunter's?
|
Hunter's is a mild Hurler's (develop delay, gargoyl, airway obstruction, HSM)
+ aggressive behavior minus corneal clouding |
|
Enzyme deficient in Metachromatic leukodystrophy vs Hunter's?
|
Metachromatic leukodystrophy: Arylsulfatase A
Hunter's: Iduronate sulfatase |
|
Buildup of Heparan and Dermatan sulfate?
|
Hurler's or Hunter's
|
|
Ceramide trihexoside builds up in what?
|
Fabry's
|
|
Angiokeratomas --> disease, enzyme, and buildup?
|
Fabry's
Alpha-galactosidase A Ceramide trihexoside |
|
Lysosomes with onion skin appearance?
|
Tay Sachs
(Hexosaminidase A deficiency) |
|
Enzyme deficient in Hunter's?
|
Iduronate sulfatase
|
|
Globoid cells, developmental delay, peripheral neuropathy and optic atrophy. Disease?
|
Krabbe's disease
|
|
Cerebroside sulfate builds up in what?
|
Metachromatic leukodystrophy
|