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16 Cards in this Set
- Front
- Back
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Peripheral neuropathy w/ pain in extremities
Angiokeratomas Death from kidney or heart failure |
Fabry's (X-linked recessive)
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Ceramide trihexosides (α-galactosidase)
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Fabry's (X-linked recessive)
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Hepatosplenomegaly
Macrophage accumulation in liver, spleen Bone involvement w/ fractures and pain "Crinkled Paper" macrophages Compatible w/ life |
Gaucher's, adult (AR)
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Glucocerebrosides (Β-glucocerebrosidase)
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Gaucher's, adult (AR)
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Progressive psychomotor retardation
Abnormal myelin Large "globoid bodies" in white matter of brain Fatal early in life |
Krabbe's (AR)
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Galactocerebrosides (Β-galactocerebrosidase)
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Krabbe's (AR)
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Ataxia
Dementia Seizures Death w/i first 10 years |
Metachromatic leukodystrophy (AR)
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Sulfatides (arylsulfatase A)
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Metachromatic leukodystrophy (AR)
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Hepatosplenomegaly
Mental Retardation Microcephaly Foamy macrophages Fatal early in life |
Niemann-Pick (AR)
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Sphingomyelin (sphingomyelinase)
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Niemann-Pick (AR)
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Muscle weakness & flaccidity
Blindness, cherry-red macular spot No hepatosplenomegaly Occurs primarily in Eastern Ashkenazi Jews Fatal at early age |
Tay-Sachs (AR)
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GM2 gangliosides (hexoaminidase A)
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Tay-Sachs (AR)
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Gargoyle facies
Corneal clouding Hepatosplenomegaly Skeletal deformities Upper airway obstruction Recurrent ear infections Hearing loss Hydrocephalus Mental retardation Death <10 yrs |
Hurler's (AR)
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dermatan sulfate, heparan sulfate (α-L-iduronidase)
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Hurler's (AR)
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Mild and severe forms
Severe like Hurler but retinal degeneration instead of corneal clouding Aggressive behavior Death <15 yrs Mild compatible w/ long life |
Hunter's (X-linked recessive)
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Dermatan sulfate, heparan sulfate (L-iduronate-2-sulfatase)
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Hunter's (X-linked recessive)
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