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LAST MINUTE! > Biochem - lysosomal storage diseases > Flashcards

Biochem - lysosomal storage diseases Flashcards

1
Q

Fabry:

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease.

α-galactosidase A

Ceramide trihexoside

XR

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2
Q

Fabry:

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease.

α-galactosidase A

Ceramide trihexoside

XR

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3
Q

Fabry:

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease.

α-galactosidase A

Ceramide trihexoside

XR

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4
Q

Fabry:

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease.

α-galactosidase A

Ceramide trihexoside

XR

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5
Q

Gauchers

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Most common. Hepatosplenomegaly, pancytopenia,

osteoporosis, aseptic necrosis of femur, bone crises, Gaucher cells A (lipid-laden macrophages resembling crumpled tissue paper); treatment is recombinant glucocerebrosidase.

Glucocerebrosidase (β-glucosidase)

Glucocerebroside

AR

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6
Q

Gauchers

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Most common. Hepatosplenomegaly, pancytopenia,

osteoporosis, aseptic necrosis of femur, bone crises, Gaucher cells A (lipid-laden macrophages resembling crumpled tissue paper); treatment is recombinant glucocerebrosidase.

Glucocerebrosidase (β-glucosidase)

Glucocerebroside

AR

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7
Q

Gauchers

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Most common. Hepatosplenomegaly, pancytopenia,

osteoporosis, aseptic necrosis of femur, bone crises, Gaucher cells A (lipid-laden macrophages resembling crumpled tissue paper); treatment is recombinant glucocerebrosidase.

Glucocerebrosidase (β-glucosidase)

Glucocerebroside

AR

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8
Q

Gauchers

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Most common. Hepatosplenomegaly, pancytopenia,

osteoporosis, aseptic necrosis of femur, bone crises, Gaucher cells A (lipid-laden macrophages resembling crumpled tissue paper); treatment is recombinant glucocerebrosidase.

Glucocerebrosidase (β-glucosidase)

Glucocerebroside

AR

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9
Q

Niemann-Pick:

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Progressive neurodegeneration, hepatosplenomegaly, foam cells (lipid-laden macrophages) B , “cherry-red” spot on macula C .

Sphingomyelinase

Sphingomyelin

AR

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10
Q

Niemann-Pick:

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Progressive neurodegeneration, hepatosplenomegaly, foam cells (lipid-laden macrophages) B , “cherry-red” spot on macula C .

Sphingomyelinase

Sphingomyelin

AR

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11
Q

Niemann-Pick:

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Progressive neurodegeneration, hepatosplenomegaly, foam cells (lipid-laden macrophages) B , “cherry-red” spot on macula C .

Sphingomyelinase

Sphingomyelin

AR

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12
Q

Niemann-Pick:

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Progressive neurodegeneration, hepatosplenomegaly, foam cells (lipid-laden macrophages) B , “cherry-red” spot on macula C .

Sphingomyelinase

Sphingomyelin

AR

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13
Q

Tay-Sachs

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Progressive neurodegeneration, developmental delay, “cherry-red” spot on macula C , lysosomes with onion skin, no hepatosplenomegaly (vs. Niemann-Pick).

Hexosaminidase A

GM2 ganglioside

AR

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14
Q

Tay-Sachs

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Progressive neurodegeneration, developmental delay, “cherry-red” spot on macula C , lysosomes with onion skin, no hepatosplenomegaly (vs. Niemann-Pick).

Hexosaminidase A

GM2 ganglioside

AR

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15
Q

Tay-Sachs

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Progressive neurodegeneration, developmental delay, “cherry-red” spot on macula C , lysosomes with onion skin, no hepatosplenomegaly (vs. Niemann-Pick).

Hexosaminidase A

GM2 ganglioside

AR

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16
Q

Tay-Sachs

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Progressive neurodegeneration, developmental delay, “cherry-red” spot on macula C , lysosomes with onion skin, no hepatosplenomegaly (vs. Niemann-Pick).

Hexosaminidase A

GM2 ganglioside

AR

17
Q

Krabbe

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Peripheral neuropathy, developmental delay, optic atrophy, globoid cells.

Galactocerebrosidase

Galactocerebroside, psychosine

AR

18
Q

Krabbe

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Peripheral neuropathy, developmental delay, optic atrophy, globoid cells.

Galactocerebrosidase

Galactocerebroside, psychosine

AR

19
Q

Krabbe

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Peripheral neuropathy, developmental delay, optic atrophy, globoid cells.

Galactocerebrosidase

Galactocerebroside, psychosine

AR

20
Q

Krabbe

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Peripheral neuropathy, developmental delay, optic atrophy, globoid cells.

Galactocerebrosidase

Galactocerebroside, psychosine

AR

21
Q

Metachromatic Leukodystrophy:

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Central and peripheral demyelination with ataxia, dementia.

Arylsulfatase A

Cerebroside sulfate

AR

22
Q

Metachromatic Leukodystrophy:

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Central and peripheral demyelination with ataxia, dementia.

Arylsulfatase A

Cerebroside sulfate

AR

23
Q

Metachromatic Leukodystrophy:

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Central and peripheral demyelination with ataxia, dementia.

Arylsulfatase A

Cerebroside sulfate

AR

24
Q

Metachromatic Leukodystrophy:

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Central and peripheral demyelination with ataxia, dementia.

Arylsulfatase A

Cerebroside sulfate

AR

25
Q

Hurler’s

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly.

α-l-iduronidase

Heparan sulfate, dermatan sulfate

AR

26
Q

Hurler’s

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly.

α-l-iduronidase

Heparan sulfate, dermatan sulfate

AR

27
Q

Hurler’s

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly.

α-l-iduronidase

Heparan sulfate, dermatan sulfate

AR

28
Q

Hurler’s

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly.

α-l-iduronidase

Heparan sulfate, dermatan sulfate

AR

29
Q

Hunter’s

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Mild Hurler + aggressive behavior, no corneal clouding.

Iduronate sulfatase

Heparan sulfate, dermatan sulfate

XR

30
Q

Hunter’s

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Mild Hurler + aggressive behavior, no corneal clouding.

Iduronate sulfatase

Heparan sulfate, dermatan sulfate

XR

31
Q

Hunter’s

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Mild Hurler + aggressive behavior, no corneal clouding.

Iduronate sulfatase

Heparan sulfate, dermatan sulfate

XR

32
Q

Hunter’s

Finding

Deficient enzyme

accumulated substrate

Inheritance

A

Mild Hurler + aggressive behavior, no corneal clouding.

Iduronate sulfatase

Heparan sulfate, dermatan sulfate

XR

33
Q

Farber’s disease

Deficient enzyme:

accumulates:

A

Deficient enzyme: ceramidase

accumulates: ceramide; in neurons and skin

34
Q

Farber’s disease

Deficient enzyme:

accumulates:

A

Deficient enzyme: ceramidase

accumulates: ceramide; in neurons and skin

35
Q

b-galactosidase deficiency

MOA:

s/s

A

MOA: b-galactosidase breaks down GAGs and lactose; so deficiency causes increased keratin sulphate

s/s: short, normal intelligence, atlantoaxial instability, valvular heart disease

36
Q

b-galactosidase deficiency

MOA:

s/s

A

MOA: b-galactosidase breaks down GAGs and lactose; so deficiency causes increased keratin sulphate

s/s: short, normal intelligence, atlantoaxial instability, valvular heart disease

LAST MINUTE! (15 decks)

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