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First Aid - Biochemistry > Lysosomal Storage Diseases > Flashcards

Lysosomal Storage Diseases Flashcards

1
Q

Clinical: Metachromatic leukodystrophy

A

Central and peripheral demyelination
Ataxia
Dementia

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2
Q

Deficient enzyme: Hurler syndrome

A

Alpha-L-iduronidase

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3
Q

Accumulated substrate: Fabry

A

Ceremide trihexoside

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4
Q

Clinical: Hurler

A 
Developmental delay
Gargoylism
Airway obstruction
Corneal clouding
Hepatosplenomegaly
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5
Q

Deficient enzyme: Metachromatic leukodystrophy

A

Arylsulfatase A

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6
Q

Accumulated substrate: Krabbe

A

Galactocerebroside

Psychosine

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7
Q

Clinical: Niemann-Pick

A

Progressive neurodegeneration
Hepatosplenomegaly
Foam cells
Cherry-red spot on macula

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8
Q

Deficient enzyme: Tay-Sachs

A

Hexosaminidase A

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9
Q

Deficient enzyme: Gaucher

A

Glucocerebrosidase

beta-glucosidase

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10
Q

Accumulated substrate: Gaucher

A

Glucocerebroside

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11
Q

Accumulated substrate: Metachromatic leukodystrophy

A

Cerebroside sulfate

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12
Q

Deficient enzyme: Hunter syndrome

A

Iduronate sulfatase

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13
Q

Clinical: Fabry (EARLY)

A

Episodic peripheral neuropathy
Angiokeratomas
Hypohidrosis

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14
Q

Accumulated substrate: Hunter and Hurler syndromes

A

Heparin sulfate

Dermatan sulfate

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15
Q

Clinical: Krabbe

A

Rapidly progressive stiffness and weakness (usually beginning 3-6 months of age; death by age 2)

Peripheral neuropathy
Developmental delay
Optic atrophy
Globoid cells

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16
Q

Accumulated substrate: Niemann-Pick

A

Sphingomyelin

17
Q

Enzyme deficiency: Hunter syndrome

A

Iduronate sulfatase

18
Q

Clinical: Fabry (LATE)

A

Progressive renal failure

Cardiovascular disease

19
Q

Clinical: Tay-Sachs

A 
Progressive neurodegeneration
Developmental delay
Cherry-red spots on macula
Lysosomes with "onion skin" 
NO hepatosplenomegaly (vs Neimann-Pick)
20
Q

Deficient enzyme: Krabbe

A

Galactocerebrosidase

beta-galactosidase

21
Q

Deficient enzyme: Fabry

A

Alpha-galactosidase A

22
Q

Clinical: Hunter

A

Mild Hurler + aggressive behavior

No corneal clouding

23
Q

Deficient enzyme: Niemann-Pick

A

Sphingomyelinase

24
Q

Clinical: Gaucher

A 
Hepatosplenomegaly
Pancytopenia
Osteoporosis
Avascular necrosis of femur
Bone crises
Gaucher cells
25
Q

Accumulated substrate: Tay-Sachs

A

GM2 ganglioside

First Aid - Biochemistry (7 decks)

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