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23 Cards in this Set
- Front
- Back
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in Hurlers and Hunters syndromes the degradation of which two cellular products is compromised
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heparan sulfate
dermatan sulfate |
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Hunters Syndrome
enzyme and distinguishing trait |
Hunters Syndrome (MPS2)
Iduronate sulfatase deficiency; cleaves the S off the end of a GAG X-linked |
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Hurlers Syndrome
enzyme and distinguishing trait |
Hurler's Syndrome (MPS1) alpha
Idoronidase corneal clouding |
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what's MPS stand for
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mucopolysaccharidoses
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what do you call a ceramide and one sugar
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a cerebroside
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what do you call a ceramide and more than one sugar
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a globoside
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what do you call a ceramide with a NANA (sialic acid)
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a ganglioside
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what is the ganglioside LSD
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Tay Sachs disease
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what is the globoside LSD
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Fabry's disease
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what is the cerebroside LSD
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Gaucher's disease
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what is the sphingomyelin LSD
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Niemann-Pick disease
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Tay Sachs deficient enzyme and accumulated substrate
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Tay-Sachs
deficiency of beta-Hexosominadase accumulation of ganglioside GM2 |
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Tay-Sachs disease
two markers |
cherry red macula
'onion-shell' inclusions of ganglioside GM2 |
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Fabry disease
deficient enzyme and accumulated substrate |
Fabry disease
deficiency of alpha-galactosidase accumulations of globoside |
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Fabry disease marker
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Fabry disease
characteristic 'bathing suit' area red rash |
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whats the most prevalent LSD
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Gaucher's disease
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Gauchers's disease deficient enzyme and accumulated product
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Gauchers's disease
deficiency of beta glucocerebrosidase accumulation of glucocerebrosides |
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Gauchers' disease marker
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Gauchers' disease
'crumpled tissue paper' appearance of cytosol adult form (99%) shows no mental retardation, but hepatomegaly and osteoporosis of long bones |
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Niemann-Pick disease deficient enzyme and accumulated product
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Niemann-Pick disease
deficiency of acid sphingomyelinase (ASM) accumulation of sphingomyelin in spleen, liver and brain |
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Niemann-Pick disease marker
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Niemann-Pick disease
foamy cells filled with sphingomyelin |
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Niemann-Pick disease
what are the two subtypes |
type A infantile severe form, cherry red macula
type B visceral chronic form, damage to lungs, spleen, viscera and bone marrow |
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where does I-cell disease get its name
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Intracytosolic Inclusions
also known as Mucolipidosis II |
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I-cell disease deficient enzyme
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deficiency of the enzyme that leads to the mannose 6-P marker after N-glycolysation, results in incomplete set of enzymes being transported into lysosomes
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