Lysosomal Storage diseases

Question 1

Enzyme deficiency in Fabry’s disease

Answer 1

Alpha-galactosidase A

Question 2

Accumulated substrate in Fabry’s disease

Answer 2

Ceramide trihexoside

Question 3

Enzyme deficiency in Gaucher’s disease

Answer 3

Beta-glucocerebrosidase

Question 4

Accumulated substrate in Gaucher’s disease

Answer 4

Glucocerebroside

Question 5

Enzyme deficiency in Niemann-Pick disease

Answer 5

Sphingomyelinase

Question 6

Accumulated substrate in Niemann-Pick disease

Answer 6

Sphingomyelin

Question 7

Enzyme deficiency in Tay-Sachs disease

Answer 7

Hexosaminidase A

Question 8

Accumulated substrate in Tay-Sachs disease

Answer 8

GM2 ganglioside

Question 9

Enzyme deficiency in Krabbe’s disease

Answer 9

Galactocerebrosidase

Question 10

Accumulated substrate in Krabbe’s disease

Answer 10

Galactocerebroside

Question 11

Enzyme deficiency in Metachromatic leukodystrophy

Answer 11

Arylsulfatase A

Question 12

Accumulated substrate in Metachromatic leukodystrophy

Answer 12

Cerebroside sulfate

Question 13

Enzyme deficiency in Hurler’s syndrome

Answer 13

Alpha-L-iduronidase

Question 14

Accumulated substrate in Hurler’s syndrome

Answer 14

Heparan sulfate and dermatan sulfate

Question 15

Enzyme deficiency in Hunter’s syndrome

Answer 15

Iduronate sulfatase

Question 16

Accumulated substrate in Hunter’s syndrome

Answer 16

Heparan sulfate and dermatan sulfate

Question 17

Lysosomal storage disease a/w renal failure

Answer 17

Fabry’s disease

Question 18

Most common lysosomal storage disease

Answer 18

Gaucher’s disease

Question 19

Only two X-linked lysosomal storage diseases

Answer 19

Fabry’s disease and Hunter’s syndrome

Question 20

Lysosomal storage disease that is a demyelinating disease

Answer 20

Metachromatic leukodystrophy

Question 21

Lysosomal storage disease that is a milder form of Hurler’s syndrome (no mental retardation)

Answer 21

Scheie’s syndrome

Question 22

Lysosomal storage disease that is due to a deficiency of mannose phosphorylation

Answer 22

I-cell disease

Question 23

Most lysosomal storage disease have this inheritance pattern

Answer 23

AR

Question 24

Gaucher’s disease features cells that are:

Answer 24

macrophages that look like crumpled tissue paper

Question 25

2 Lysosomal storage diseases that are a/w progressive neurodegeneration

Answer 25

Niemann Pick and Tay Sachs

Question 26

Lysosomal storage disease that is associated with bone crises

Answer 26

Gaucher's

Question 27

Lysosomal storage diseases (2) that are a/w cherry red spot on macula

Answer 27

Niemann-Pick & Tay-Sachs

Question 28

Main difference b/w Niemann Pick and Tay-Sachs

Answer 28

Tay-Sachs does NOT have hepatosplenomegaly

Question 29

LSD w/ foam cells

Answer 29

Niemann-Pick

Question 30

peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal dx

Answer 30

Fabry's Dz

Question 31

Hepatosplenomegaly, aseptic necrosis of femur, bone crises,

Answer 31

Gaucher's Dz

Question 32

Progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula, foam cells

Answer 32

Niemann Pick Dz

Question 33

Progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosomes w/ onion skin, NO heptaosplenomegaly

Answer 33

Tay Sachs

Question 34

Peripheral neuropathy, developmental delay, optic atrophy, globoid cells

Answer 34

Krabbe's Dz

Question 35

Central & peripheral demyelination w/ ataxia, dementia

Answer 35

Metachromatic leukodystrophy

Question 36

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

Answer 36

Hurler's Syndrome

Question 37

Mild developmental delay, gargoylism, airway obstruction, MR, hepatosplenomegaly, aggressive behavior

Answer 37

Hunter's Syndrome

Question 38

1. Which lysosomal storage disease is associated with renal failure? 2. How does it present? 3. What is the treatment?

Answer 38

1. _Fabry disease_ 2. _Presentation_ * Peripheral neuropathy of the hands and feet * Angiokeratomas * Cardiovascular and renal disease * Deficiency in alpha-galactosidase A (X-linked ressesive) 3. _Treat with dialysis_

Question 39

1. What are the only 2 X-linked recessive lysosomal storage diseases? 2. What is the method of inheritance of the others?

Answer 39

1. Fabry disease and Hunter disease (X marks the spot) 2. Most are autosomal recessive

Question 40

What is the most common lysosomal storage disease?

Answer 40

_Gaucher disease_ 1. Hepatosplenomegaly 2. Aseptic necrosis of femur 3. Macrophages look like crumpled tissue paper

Question 41

Which lysosomal storage diseases are associated with early death (Usually by age 3)?

Answer 41

1. Tay-Sachs disease 2. Niemann-Pick disease 3. Krabbe disease

Question 42

Which lysosomal storage disease is a demyelinating disease?

Answer 42

Metochromatic leukodystrophy

Question 43

How might corneal clouding and mental retardation help distinguish between the mucopolysaccharidoses? 1. Hurler syndrome 2. Hunter syndrome 3. Scheie syndrome 4. I-cell disease

Answer 43

1. Hurler syndrome: **Corneal clouding + Mental retardation** 2. Hunter syndrome: **Mental retardation only** 3. Scheie syndrome: **Corneal clouding only** 4. I-cell disease: **Corneal clouding +/- Mental retardation** *Scheie syndrome is essentially a milder form of Hurler syndrome*

Question 44

Alpha-L-iduronidase deficiency

Answer 44

Hurler's Syndrome

Question 45

Iduronate sulfatase deficiency

Answer 45

Hunter syndrome

Question 46

Arylsulfatase A defeciency

Answer 46

Metachromatic leukodystrophy

Question 47

Alpha-galactosidase A deficiency

Answer 47

Fabry disease

Question 48

Galactocerebrosidase deficiency -\> galactocerebroside accumulation

Answer 48

Krabbe disease

Question 49

Beta-glucocerebrosidase deficiency -\> glucocerebroside accumulation

Answer 49

Gaucher disease

Question 50

Hexosaminidase deficiency

Answer 50

Tay-Sachs disease

Question 51

Sphingomyelinase deficiency -\> Sphingomyelin accumulation

Answer 51

Niemann-Pick disease

Question 52

Characterized by an accumulation of GM2 ganglioside

Answer 52

Tay-Sachs disease

Question 53

Characterized by an accumulation of dermatan sulfate

Answer 53

Hurler, Hunter, and Scheie syndromes

Question 54

Which are particularly common among Ashkenazi jews?

Answer 54

1. Tay-Sachs disease 2. Niemann-Pick disease 3. Gaucher disease

Question 55

Which has characteristic "Crinkled paper cytoplasm"?

Answer 55

Gaucher disease

Question 56

What is the differential diagnosis for a cherry-red spot on the retina?

Answer 56

1. Niemann-Pick disease 2. Tay-Sachs disease 3. Central retinal artery occlusion