Lysosomal Storage Disorders

Question 1

What is the deficient enzyme in Hurler Syndrome?

Answer 1

Iduronidase

Question 2

Which substrates accumulate in Hurler Syndrome?

Answer 2

Dermatan Sulfate

Heparan Sulfate

Question 3

What diagnostic method do you use for Hurler Syndrome?

Answer 3

Fibroblast assay

Question 4

In Hurler Syndrome, what can be found in the urine?

Answer 4

Glycosaminoglycans

Question 5

What is the deficiency enzyme in Hunter Syndrome?

Answer 5

Iduronate Sulfatase

Question 6

Which is milder, Hunter or Hurler syndrome?

Answer 6

Hunter

Question 7

What is one distinguishing characteristic between patients with Hunter syndrome and Hurler syndrome?

Answer 7

Hunter Syndrome = NO corneal clouding

Question 8

What are some features of patients with Hurler syndrome?

Answer 8

Course facial features
Short stature
Developmental delay
Hepatosplenomegaly
restricted joint mobility
Corneal Clouding

Question 9

What are some features of patients with Hunter Syndrome?

Answer 9

Course facial features
hepatosplenomegaly
mild to moderate mental retardation

Question 10

What are sphingolipids?

Answer 10

group of complex lipids containing sphingosine as alcohol

Question 11

What makes up ceramide?

Answer 11

Sphingosine + fatty acid = ceramide

Question 12

What are the two classes of Sphingolipids?

Answer 12

Glycosphingolipids

Sphingophospholipids

Question 13

What do glycosphingolipids contain?

Answer 13

A carbohydrate moiety linked to ceramide

Question 14

What do Sphingophospholipids contain?

Answer 14

Phosphoryl choline moiety linked to ceramide

Question 15

What is the deficient enzyme in Tay-Sachs disease?

Answer 15

B-Hexosaminidase A

Question 16

What is the accumulating substrate in Tay-Sachs?

Answer 16

Ganglioside (Gm2)

Question 17

Ganglioside is also known as what?

Answer 17

Gangliosidosis

Question 18

What are the distinguishing features of Tay Sachs?

Answer 18

• Cherry-red spot on macula
• Onion-shell inclusions in lysosomes
• Normal Retina
• Progressive neurodegeneration after 3-6 months
• Blindness
• Developmental milestone delay
• Death by 2-6 yr/old

Question 19

How can carriers of Tay Sachs be detected?

Answer 19

Enzyme assays

Question 20

Hunter’s syndrome is genetically categorized as?

Answer 20

X-linked recessive

Question 21

Which is the most common lysosomal storage disorder?

Answer 21

Gaucher disease

Question 22

What is the deficient enzyme in Gaucher disease?

Answer 22

B-glucosidase

Question 23

What is the accumulating substrate in Gaucher disease?

Answer 23

Glucosyl Ceramide

Question 24

Glucosyl Ceramide is also known as what?

Answer 24

Glucocerebroside

Question 25

What happens to macrophages in Guacher disease?

Answer 25

become engorged with glucocerebrosides

Question 26

What describes the appearance of the cytoplasm of the Gaucher cells in Gaucher disease?

Answer 26

Crumpled tissue paper

Question 27

Genetically, what sort of disorder is Fabry's disease?

Answer 27

x-linked recessive

Question 28

What is the deficient enzyme in Fabry's disease?

Answer 28

alpha-Galactosidase

Question 29

What substate accumulates in Fabry's disease?

Answer 29

Globoside

Question 30

What is another name for Globoside/

Answer 30

Ceramide trihexoside

Question 31

How is Fabry disease manifested?

Answer 31

- Skin rash "bathing-trunk distribution" | - Peripheral neuropathy

Question 32

What is the deficient enzyme in Niemann-Pick disease?

Answer 32

Sphingomyelinase

Question 33

What is the substrate that accumulates in Niemann-Pick disease?

Answer 33

Sphingomyelin

Question 34

What is spingomyelin?

Answer 34

A sphingophospholipid

Question 35

In niemann-pick disease, where does sphingomyelin accumulate?

Answer 35

Neural tissues

Question 36

What is the difference between Niemann Pick type A and type B?

Answer 36

Type A- severe infantile form = death by 2-3 yr/old | Type B: appears later in childhood; hepatosplenomegaly

Question 37

In Niemann-Pick disease, cells containing sphingomyelin have a ________ appearance.

Answer 37

Foamy Cell

Question 38

Which lysosomal storage diseases present with cherry-red spots on the macula?

Answer 38

Tay-Sachs | Niemann-Pick

Question 39

What is the deficiency enzyme in Metachromatic Leukodystrophy?

Answer 39

Aryl Sulfatase A

Question 40

What is the accumulating substrate in metachromatic leukodystrophy?

Answer 40

Sulfatide

Question 41

In metachromatic leukodystrophy, sulfatide cannot be broken down into what?

Answer 41

Galactosyl Ceramide

Question 42

In Fabry disease, Globoside cannot be broken down into what?

Answer 42

Lactosyl Ceramide

Question 43

In Tay-Sachs disease, Ganglioside (Gm2) cannot be broken down into what?

Answer 43

Ganglioside (Gm3)

Question 44

In Gaucher disease, Glucosyl ceremide cannot be broken down into what?

Answer 44

Ceramide

Question 45

In Niemann-Pick disease, Sphingomyelin cannot be broken down into what?

Answer 45

Ceramide

Question 46

In Pompe disease, a small amount of cellular glycogen is degraded by what enzyme?

Answer 46

Lysosomal acid maltase

Question 47

Lysosomal acid maltase (Pompe disease) is also known as what?

Answer 47

1->4 glucosidase

Question 48

What parts of the body do glycogen accumulate in Pompe disease?

Answer 48

Heart Muscle Kidney Liver

Question 49

What type of glycogen disorder is Pompe disease?

Answer 49

Glycogen storage disorder type II

Question 50

In I-cell disease, what does the golgi fail to do?

Answer 50

Phosphorylate mannose to form mannose-6-phosphate

Question 51

In I-cell disease, what accumulates in the lysosomes?

Answer 51

Glycosaminoglycans and sphingolipids

Question 52

Why is it called I-cell disease?

Answer 52

Unique feature: fibroblasts contain intracytoplasmic inclusions. Cells termed "inclusion cells"