Science Quiz / Lysosomal Storage Disease

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Can you name the Lysosomal Storage Disease

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HintAnswer
Accumulated substrate: Fabry's disease
X-Linked recessive lysosomal storage disease
Cherry red spot on macula with hepatosplenomegaly
Central and peripheral demyelination with ataxia, dementia
Crumpled tissue paper macrophages
Peripheral neuropathy, gobloid cells, optic atrophy, developmental delay
Accumulated substrate: Hunter's syndrome
Deficient enzyme: Tay-Sachs disease
Deficient enzyme: Hunter's syndrome
Deficient enzyme: Niemann-Pick Disease
Accumulated substrate: Metachromatic Leukodystrophy
Peripheral neuropathy, angiokeratomas, CV/renal disease, corneal opacities
Aseptic necrosis of the femur
Milder mucopolysaccharidosis with aggressive behavior
HintAnswer
Accumulated substrate: Tay-Sachs disease
X-Linked recessive mucopolysaccharidosis
Accumulated substrate: Niemann-Pick disease
Accumulated substrate: Hurler's syndrome
Lysosomes with onion skin
Deficient enzyme Gaucher's disease
Deficient enzyme: Hurler's syndrome
Deficient enzyme: Krabbe's Disease
Cherry red spot on macula without hepatosplenomegaly
Accumulated substrate: Krabbe's disease
Deficient enzyme: Metachromatic Leukodystrophy
Deficient enzyme: Fabry's disease
Accumulated substrate: Gaucher's Disease
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

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Created Apr 29, 2014ReportNominate
Tags:disease, storage

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