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Medical Biochemistry > Lysosomal Storage Disorders > Flashcards

Lysosomal Storage Disorders Flashcards

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USMLE® Step 1 flashcards
1
Q

What is the deficient enzyme in Hurler Syndrome?

A

Iduronidase

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2
Q

Which substrates accumulate in Hurler Syndrome?

A

Dermatan Sulfate

Heparan Sulfate

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3
Q

What diagnostic method do you use for Hurler Syndrome?

A

Fibroblast assay

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4
Q

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

A

Glycosaminoglycans

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5
Q

What is the deficiency enzyme in Hunter Syndrome?

A

Iduronate Sulfatase

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6
Q

Which is milder, Hunter or Hurler syndrome?

A

Hunter

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7
Q

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

A

Hunter Syndrome = NO corneal clouding

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8
Q

What are some features of patients with Hurler syndrome?

A 
Course facial features
Short stature
Developmental delay
Hepatosplenomegaly
restricted joint mobility
Corneal Clouding
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9
Q

What are some features of patients with Hunter Syndrome?

A

Course facial features
hepatosplenomegaly
mild to moderate mental retardation

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10
Q

What are sphingolipids?

A

group of complex lipids containing sphingosine as alcohol

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11
Q

What makes up ceramide?

A

Sphingosine + fatty acid = ceramide

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12
Q

What are the two classes of Sphingolipids?

A

Glycosphingolipids

Sphingophospholipids

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13
Q

What do glycosphingolipids contain?

A

A carbohydrate moiety linked to ceramide

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14
Q

What do Sphingophospholipids contain?

A

Phosphoryl choline moiety linked to ceramide

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15
Q

What is the deficient enzyme in Tay-Sachs disease?

A

B-Hexosaminidase A

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16
Q

What is the accumulating substrate in Tay-Sachs?

A

Ganglioside (Gm2)

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17
Q

Ganglioside is also known as what?

A

Gangliosidosis

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18
Q

What are the distinguishing features of Tay Sachs?

A
  • 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
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19
Q

How can carriers of Tay Sachs be detected?

A

Enzyme assays

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20
Q

Hunter’s syndrome is genetically categorized as?

A

X-linked recessive

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21
Q

Which is the most common lysosomal storage disorder?

A

Gaucher disease

22
Q

What is the deficient enzyme in Gaucher disease?

A

B-glucosidase

23
Q

What is the accumulating substrate in Gaucher disease?

A

Glucosyl Ceramide

24
Q

Glucosyl Ceramide is also known as what?

A

Glucocerebroside

25
Q

What happens to macrophages in Guacher disease?

A

become engorged with glucocerebrosides

26
Q

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

A

Crumpled tissue paper

27
Q

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

A

x-linked recessive

28
Q

What is the deficient enzyme in Fabry’s disease?

A

alpha-Galactosidase

29
Q

What substate accumulates in Fabry’s disease?

A

Globoside

30
Q

What is another name for Globoside/

A

Ceramide trihexoside

31
Q

How is Fabry disease manifested?

A
  • Skin rash “bathing-trunk distribution”

- Peripheral neuropathy

32
Q

What is the deficient enzyme in Niemann-Pick disease?

A

Sphingomyelinase

33
Q

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

A

Sphingomyelin

34
Q

What is spingomyelin?

A

A sphingophospholipid

35
Q

In niemann-pick disease, where does sphingomyelin accumulate?

A

Neural tissues

36
Q

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

A

Type A- severe infantile form = death by 2-3 yr/old

Type B: appears later in childhood; hepatosplenomegaly

37
Q

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

A

Foamy Cell

38
Q

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

A

Tay-Sachs

Niemann-Pick

39
Q

What is the deficiency enzyme in Metachromatic Leukodystrophy?

A

Aryl Sulfatase A

40
Q

What is the accumulating substrate in metachromatic leukodystrophy?

A

Sulfatide

41
Q

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

A

Galactosyl Ceramide

42
Q

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

A

Lactosyl Ceramide

43
Q

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

A

Ganglioside (Gm3)

44
Q

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

A

Ceramide

45
Q

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

A

Ceramide

46
Q

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

A

Lysosomal acid maltase

47
Q

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

A

1->4 glucosidase

48
Q

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

A

Heart
Muscle
Kidney
Liver

49
Q

What type of glycogen disorder is Pompe disease?

A

Glycogen storage disorder type II

50
Q

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

A

Phosphorylate mannose to form mannose-6-phosphate

51
Q

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

A

Glycosaminoglycans and sphingolipids

52
Q

Why is it called I-cell disease?

A

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

Medical Biochemistry (35 decks)

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