Biochem - lysosomal storage diseases Flashcards Preview

LAST MINUTE! > Biochem - lysosomal storage diseases > Flashcards

Flashcards in Biochem - lysosomal storage diseases Deck (36):
1

Fabry:

Finding

Deficient enzyme

accumulated substrate

Inheritance

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

α-galactosidase A

Ceramide trihexoside

XR

2

Fabry:

Finding

Deficient enzyme

accumulated substrate

Inheritance

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

α-galactosidase A

Ceramide trihexoside

XR

3

Fabry:

Finding

Deficient enzyme

accumulated substrate

Inheritance

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

α-galactosidase A

Ceramide trihexoside

XR

4

Fabry:

Finding

Deficient enzyme

accumulated substrate

Inheritance

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

α-galactosidase A

Ceramide trihexoside

XR

5

Gauchers

Finding

Deficient enzyme

accumulated substrate

Inheritance

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

6

Gauchers

Finding

Deficient enzyme

accumulated substrate

Inheritance

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

7

Gauchers

Finding

Deficient enzyme

accumulated substrate

Inheritance

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

8

Gauchers

Finding

Deficient enzyme

accumulated substrate

Inheritance

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

9

Niemann-Pick:

Finding

Deficient enzyme

accumulated substrate

Inheritance

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

Sphingomyelinase

Sphingomyelin

AR

10

Niemann-Pick:

Finding

Deficient enzyme

accumulated substrate

Inheritance

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

Sphingomyelinase

Sphingomyelin

AR

11

Niemann-Pick:

Finding

Deficient enzyme

accumulated substrate

Inheritance

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

Sphingomyelinase

Sphingomyelin

AR

12

Niemann-Pick:

Finding

Deficient enzyme

accumulated substrate

Inheritance

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

Sphingomyelinase

Sphingomyelin

AR

13

Tay-Sachs

Finding

Deficient enzyme

accumulated substrate

Inheritance

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

Hexosaminidase A

GM2 ganglioside

AR

14

Tay-Sachs

Finding

Deficient enzyme

accumulated substrate

Inheritance

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

Hexosaminidase A

GM2 ganglioside

AR

15

Tay-Sachs

Finding

Deficient enzyme

accumulated substrate

Inheritance

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

Hexosaminidase A

GM2 ganglioside

AR

16

Tay-Sachs

Finding

Deficient enzyme

accumulated substrate

Inheritance

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

Krabbe

Finding

Deficient enzyme

accumulated substrate

Inheritance

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

Galactocerebrosidase

Galactocerebroside, psychosine

AR

18

Krabbe

Finding

Deficient enzyme

accumulated substrate

Inheritance

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

Galactocerebrosidase

Galactocerebroside, psychosine

AR

19

Krabbe

Finding

Deficient enzyme

accumulated substrate

Inheritance

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

Galactocerebrosidase

Galactocerebroside, psychosine

AR

20

Krabbe

Finding

Deficient enzyme

accumulated substrate

Inheritance

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

Galactocerebrosidase

Galactocerebroside, psychosine

AR

21

Metachromatic Leukodystrophy:

Finding

Deficient enzyme

accumulated substrate

Inheritance

Central and peripheral demyelination with ataxia, dementia.

Arylsulfatase A

Cerebroside sulfate

AR

22

Metachromatic Leukodystrophy:

Finding

Deficient enzyme

accumulated substrate

Inheritance

Central and peripheral demyelination with ataxia, dementia.

Arylsulfatase A

Cerebroside sulfate

AR

23

Metachromatic Leukodystrophy:

Finding

Deficient enzyme

accumulated substrate

Inheritance

Central and peripheral demyelination with ataxia, dementia.

Arylsulfatase A

Cerebroside sulfate

AR

24

Metachromatic Leukodystrophy:

Finding

Deficient enzyme

accumulated substrate

Inheritance

Central and peripheral demyelination with ataxia, dementia.

Arylsulfatase A

Cerebroside sulfate

AR

25

Hurler's

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

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

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

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

Finding

Deficient enzyme

accumulated substrate

Inheritance

Mild Hurler + aggressive behavior, no corneal clouding.

Iduronate sulfatase

Heparan sulfate, dermatan sulfate

XR

30

Hunter's

Finding

Deficient enzyme

accumulated substrate

Inheritance

Mild Hurler + aggressive behavior, no corneal clouding.

Iduronate sulfatase

Heparan sulfate, dermatan sulfate

XR

31

Hunter's

Finding

Deficient enzyme

accumulated substrate

Inheritance

Mild Hurler + aggressive behavior, no corneal clouding.

Iduronate sulfatase

Heparan sulfate, dermatan sulfate

XR

32

Hunter's

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

accumulates: ceramide; in neurons and skin

35

b-galactosidase deficiency

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

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