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30 Cards in this Set
- Front
- Back
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Sphingolipidoses: Fabry's disease
Findings? |
Peripheral neuropathy (hands/feet)
Angiokeratomas CV/Renal disease |
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Sphingolipidoses: Fabry's disease
Deficient enzyme? |
Alpha-galactosidase A
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Sphingolipidoses: Fabry's disease
Accumulated substrate? |
Ceramide trihexose
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Sphingolipidoses: Fabry's disease
Inheritance? |
XR
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Most common sphingolipidosis
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Gaucher's disease
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Sphingolipidoses: Gaucher's disease
Findings? |
HSM
Aseptic necrosis of femur Bone crises Gaucher cells (crumpled macrophages) |
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Sphingolipidoses: Gaucher's disease
Deficient enzyme? |
Beta-glucocerebrosidase
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Sphingolipidoses: Gaucher's disease
Accumulated substrate |
Glucocerebroside
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Sphingolipidoses: Gaucher's disease
Inheritance? |
AR
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Sphingolipidoses: Niemann-Pick disease
Findings? |
Progressive neurodegeneration
HSM Cherry-red spot on macula Foam cells |
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Sphingolipidoses: Niemann-Pick disease
Deficient enzyme? |
Sphingomyelinase
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Sphingolipidoses: Niemann-Pick disease
Accumulated substrate? |
Sphingomyelin
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Sphingolipidoses: Niemann-Pick disease
Inheritance? |
AR
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Sphingolipidoses: Tay-Sachs disease
Findings? |
Progressive neurodegeneration
Developmental delay Cherry-red spot on macula Lysosomes with onion skin (No HSM) |
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Sphingolipidoses: Krabbe's disease
Findings? |
Peripheral neuropathy
Developmental delay Optic atrophy Globoid cells |
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Sphingolipidoses: Krabbe's disease
Deficient enzyme? |
Galactocerebrosidase
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Sphingolipidoses: Krabbe's disease
Accumulated substrate? |
Galactocerebroside
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Sphingolipidoses: Krabbe's disease
Inheritance? |
AR
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Sphingolipidoses: Metachromatic leukodystrophy
Findings? |
Central and peripheral demyelination
Ataxia Dementia |
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Sphingolipidoses: Metachromatic leukodystrophy
Deficient enzyme? |
Arylsulfatase A
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Sphingolipidoses: Metachromatic leukodystrophy
Accumulated substrate? |
Cerebroside sulfate
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Sphingolipidoses: Metachromatic leukodystrophy
Inheritance? |
AR
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Mucopolysaccharidoses: Hurler's syndrome
Findings? |
Developmental delay
"Gargoylism" Airway obstruction Corneal clouding HSM |
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Mucopolysaccharidoses: Hurler's syndrome
Deficient enzyme? |
Alpha-L-iduronidase
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Mucopolysaccharidoses: Hurler's syndrome
Accumulated substrate? |
Heparan sulfate, dermatan sulfate
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Mucopolysaccharidoses: Hurler's syndrome
Inheritance? |
AR
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Mucopolysaccharidoses: Hunter's syndrome
Findings? |
Mild Hurler's + aggresive behavior
(No corneal clouding) |
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Mucopolysaccharidoses: Hunter's syndrome
Deficient enzyme? |
Iduronate sulfatase
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Mucopolysaccharidoses: Hunter's syndrome
Accumulated substrate? |
Heparan sulfate, dermatan sulfate
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Mucopolysaccharidoses: Hunter's syndrome
Inheritance? |
XR
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