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Lysosomal storage diseases Flashcards

1
Q

Findings in Fabry Disease

A 
Triad of:
Peripheral neuropathy
Hypohidrosis
Angiokeratomas (buttocks, groin & umbilicus)
Late:
Cardiovascular disease
Renal Failure
Cerebrovascular disease
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2
Q

Deficient enzyme in Fabry Disease

A

alpha-galactosidase

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3
Q

Accumulated substrate in Fabry Disease

A

Ceramide trihexoside

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4
Q

Findings in Gaucher Disease

A 
Hepatosplenomegaly
Pancytopenia 
Bone crisis
Osteoporosis
Asceptic necrosis of femur
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5
Q

Deficient enzyme in Gaucher Disease

A

Glucocerebrosidase

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6
Q

Accumulated substrate in Gaucher Disease

A

Glucocerebroside

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7
Q

Findings in Nieman-Pick Disease

A

Hepatosplenomegaly
Cherry red spots on macula
Neurodegeneration

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8
Q

Deficient enzyme in Nieman-Pick Disease

A

Sphingomyelinase

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9
Q

Accumulated substrate in Nieman-Pick Disease

A

Sphingomyelin

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10
Q

Findings in Tay-Sachs Disease

A

Cherry red spots on macula
Neurodegeneration
Developmental delay

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11
Q

Deficient enzyme in Tay-Sachs Disease

A

Hexosaminidase A

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12
Q

Accumulated substrate in Tay-Sachs Disease

A

GM2 Ganglioside

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13
Q

Findings in Krabbe Disease

A

Peripheral neuropathy
Optic atrophy
Globoid cells
Developmental delay

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14
Q

Deficient enzyme in Krabbe Disease

A

Galactocerebrosidase

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15
Q

Accumulated substrate in Krabbe Disease

A

Galactocerebroside

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16
Q

Findings in Metachromatic Leukodistrophy

A

Central & peripheral demyelination - ataxia & dementia

17
Q

Deficient enzyme in Metachromatic Leukodistrophy

A

Aryl sulfatase

18
Q

Accumulated substrate in Metachromatic Leukodistrophy

A

Cerebroside sulfate

19
Q

Findings in Hurler Syndrome

A 
GORGOLISM
Developmental delay
Hepatosplenomegaly
Airway obstruction
Corneal clouding
20
Q

Deficient enzyme in Hurler Syndrome

A

alpha-L-iduronidase

21
Q

Accumulated substrate in Hurler Syndrome

A

Heparan & dermatan sulfate

22
Q

Findings in Hunter Syndrome

A

Mild Hurler Syndrome + Aggressive behavior

23
Q

Deficient enzyme in Hunter Syndrome

A

Iduronate-2-sulfatase

24
Q

Accumulated substrate in Hunter Syndrome

A

Heparan & dermatan sulfate

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