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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
**_Hurler's_** ## Footnote **Finding** Deficient enzyme accumulated substrate Inheritance
**Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly.** α-l-iduronidase Heparan sulfate, dermatan sulfate AR
26
**_Hurler's_** ## Footnote Finding **Deficient enzyme** accumulated substrate Inheritance
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly. **α-l-iduronidase** Heparan sulfate, dermatan sulfate AR
27
**_Hurler's_** ## Footnote Finding Deficient enzyme **accumulated substrate** Inheritance
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly. α-l-iduronidase **Heparan sulfate, dermatan sulfate** AR
28
**_Hurler's_** ## Footnote Finding Deficient enzyme accumulated substrate **Inheritance**
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly. α-l-iduronidase Heparan sulfate, dermatan sulfate **AR**
29
**_Hunter's_** ## Footnote **Finding** Deficient enzyme accumulated substrate Inheritance
**Mild Hurler + aggressive behavior, no corneal clouding.** Iduronate sulfatase Heparan sulfate, dermatan sulfate XR
30
**_Hunter's_** ## Footnote Finding **Deficient enzyme** accumulated substrate Inheritance
Mild Hurler + aggressive behavior, no corneal clouding. **Iduronate sulfatase** Heparan sulfate, dermatan sulfate XR
31
**_Hunter's_** ## Footnote Finding Deficient enzyme **accumulated substrate** Inheritance
Mild Hurler + aggressive behavior, no corneal clouding. Iduronate sulfatase **Heparan sulfate, dermatan sulfate** XR
32
**_Hunter's_** ## Footnote Finding Deficient enzyme accumulated substrate **Inheritance**
Mild Hurler + aggressive behavior, no corneal clouding. Iduronate sulfatase Heparan sulfate, dermatan sulfate **XR**
33
**_Farber's disease_** **Deficient enzyme:** accumulates:
**Deficient enzyme: ceramidase** accumulates: ceramide; in neurons and skin
34
**_Farber's disease_** Deficient enzyme: **accumulates:**
Deficient enzyme: ceramidase ## Footnote **accumulates: ceramide; in neurons and skin**
35
b-galactosidase deficiency ## Footnote **MOA:** s/s
**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
b-galactosidase deficiency ## Footnote MOA: **s/s**
MOA: b-galactosidase breaks down GAGs and lactose; so deficiency causes increased keratin sulphate ## Footnote **s/s: short, normal intelligence, atlantoaxial instability, valvular heart disease**

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