Science Quiz / Lysosomal Storage Disease

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QUIZ: Can you name the Lysosomal Storage Disease

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

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