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8 Cards in this Set
- Front
- Back
- 3rd side (hint)
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Fabry's disease
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Deficient - α-galactosidase A
Accumulation - ceramide trihexoside X-linked recessive |
Peripheral neuropathy (hands/feet) Angiokeratomas CV/renal disease |
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Gaucher's disease
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Deficient - β-glucocerebrosidase
Accumulation - glucocerebroside Autosomal recessive |
Hepatosplenomegaly Aseptic necrosis of femur, bone crises Gaucher's cells - macrophages with "crumped tissue paper" appearance Bonus - most common lysosomal storage disorder! |
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Hunter's syndrome
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Deficient - iduronate sulfatase
Accumulation - heparan sulfate, dermatan sulfate X-linked recessive |
Mild Hurler's symptoms (developmental delay, gargoylism, airway obstruction, hepatosplenomegaly) With aggression W/o corneal clouding |
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Krabbe's disease
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Deficiency - galactocerebrosidase
Accumulation - galactocerebroside Autosomal recessive |
Peripheral neuropathy Development delays Optic atrophy Globoid cells |
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Niemann-Pick
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Deficiency - sphingomyelinase
Accumulation - sphingomyelin Autosomal recessive Remember - "No man picks" his nose with his "sphinger" |
Progressive neurodegeneration Cherry-red spot on macula Hepatosplenomegaly Foam cells |
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Hurler's syndrome
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Deficient - α-L-iduronidase
Accumulation - heparan sulfate, dermatan sulfate Autosomal recessive |
Development delays Corneal clouding Gargoylism Airway obstruction Hepatosplenomegaly |
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Tay-Sachs disease
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Deficient - hexosaminidase A
(imagine "Tay-Sachs" spelled "Tay-SaX") Accumulation - GM₂ Autosomal recessive |
Progressive neurodegeneration Cherry-red spot on macula Development delay Lysosomes with "onion skin" NO hepatosplenomegaly (unlike Niemann-Pick) |
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Metachromatic leukodystrophy
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Deficient - arylsulfatase A
Accumulation - cerebroside sulfate Autosomal recessive |
Central & peripheral demyelination Ataxia Dementia |
