Science Quiz / Lysosomal Storage Disease

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Can you name the Lysosomal Storage Disease

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

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