Science Quiz / Lysosomal Storage Disease

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Can you name the Lysosomal Storage Disease

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

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