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Flashcards in Lysosomal Storage Disorders Deck (52):
1

What is the deficient enzyme in Hurler Syndrome?

Iduronidase

2

Which substrates accumulate in Hurler Syndrome?

Dermatan Sulfate
Heparan Sulfate

3

What diagnostic method do you use for Hurler Syndrome?

Fibroblast assay

4

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

Glycosaminoglycans

5

What is the deficiency enzyme in Hunter Syndrome?

Iduronate Sulfatase

6

Which is milder, Hunter or Hurler syndrome?

Hunter

7

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

Hunter Syndrome = NO corneal clouding

8

What are some features of patients with Hurler syndrome?

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

9

What are some features of patients with Hunter Syndrome?

Course facial features
hepatosplenomegaly
mild to moderate mental retardation

10

What are sphingolipids?

group of complex lipids containing sphingosine as alcohol

11

What makes up ceramide?

Sphingosine + fatty acid = ceramide

12

What are the two classes of Sphingolipids?

Glycosphingolipids
Sphingophospholipids

13

What do glycosphingolipids contain?

A carbohydrate moiety linked to ceramide

14

What do Sphingophospholipids contain?

Phosphoryl choline moiety linked to ceramide

15

What is the deficient enzyme in Tay-Sachs disease?

B-Hexosaminidase A

16

What is the accumulating substrate in Tay-Sachs?

Ganglioside (Gm2)

17

Ganglioside is also known as what?

Gangliosidosis

18

What are the distinguishing features of Tay Sachs?

-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

19

How can carriers of Tay Sachs be detected?

Enzyme assays

20

Hunter's syndrome is genetically categorized as?

X-linked recessive

21

Which is the most common lysosomal storage disorder?

Gaucher disease

22

What is the deficient enzyme in Gaucher disease?

B-glucosidase

23

What is the accumulating substrate in Gaucher disease?

Glucosyl Ceramide

24

Glucosyl Ceramide is also known as what?

Glucocerebroside

25

What happens to macrophages in Guacher disease?

become engorged with glucocerebrosides

26

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

Crumpled tissue paper

27

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

x-linked recessive

28

What is the deficient enzyme in Fabry's disease?

alpha-Galactosidase

29

What substate accumulates in Fabry's disease?

Globoside

30

What is another name for Globoside/

Ceramide trihexoside

31

How is Fabry disease manifested?

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

32

What is the deficient enzyme in Niemann-Pick disease?

Sphingomyelinase

33

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

Sphingomyelin

34

What is spingomyelin?

A sphingophospholipid

35

In niemann-pick disease, where does sphingomyelin accumulate?

Neural tissues

36

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

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

37

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

Foamy Cell

38

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

Tay-Sachs
Niemann-Pick

39

What is the deficiency enzyme in Metachromatic Leukodystrophy?

Aryl Sulfatase A

40

What is the accumulating substrate in metachromatic leukodystrophy?

Sulfatide

41

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

Galactosyl Ceramide

42

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

Lactosyl Ceramide

43

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

Ganglioside (Gm3)

44

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

Ceramide

45

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

Ceramide

46

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

Lysosomal acid maltase

47

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

1->4 glucosidase

48

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

Heart
Muscle
Kidney
Liver

49

What type of glycogen disorder is Pompe disease?

Glycogen storage disorder type II

50

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

Phosphorylate mannose to form mannose-6-phosphate

51

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

Glycosaminoglycans and sphingolipids

52

Why is it called I-cell disease?

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