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Metabolism > Storage diseases > Flashcards

Storage diseases Flashcards

1
Q

Another name for GSD I?

A

Von Geirkes disease

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2
Q

Another name for GSD II?

A

Pompe’s Disease

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3
Q

Another name for GSD III?

A

Cori’s Disease

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4
Q

Another name for GSD IV?

A

Anderson’s Disease

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5
Q

Another name for GSD V?

A

McArdle’s Disease

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6
Q

Another name for GSD VI?

A

Hers’ Disease

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7
Q

Another name for GSD VII?

A

VII

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8
Q

Another name for GSD VIII?

A

VIII

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9
Q

Defective enzyme in I?

A

G6 phosphotase

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10
Q

Defective enzyme in II?

A

1-4 Glucosidase

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11
Q

Defective enzyme in III?

A

Amylo 1-6 debranching

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12
Q

Defective enzyme in IV?

A

Branching enzyme

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13
Q

Defective enzyme in V?

A

Phosphorylase

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14
Q

Defective enzyme in VI?

A

Phosphorylase

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15
Q

Defective enzyme in VII?

A

PFKI

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16
Q

Defective enzyme in VIII?

A

Phosphorulase Kinase

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17
Q

Affected organ in I?

A

Liver & Kidney

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18
Q

Affected organ in II?

A

All organs

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19
Q

Affected organ in III?

A

Muscles & Liver

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20
Q

Affected organ in IV?

A

Liver & Spleen

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21
Q

Affected organ in V?

A

Muscle

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22
Q

Affected organ in VI?

A

Liver

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23
Q

Affected organ in VII?

A

Musle

24
Q

Affected organ in VIII?

A

Liver

25
Q

Which diseases only affect the liver?

A

VIII & VI

26
Q

Which diseases only affect muscle?

A

V & VII

27
Q

What happens to glycogen in GSD I?

A

Increased amount, normal sturcture

28
Q

What happens to glycogen in GSD II?

A

Massive Increase in amount, normal structure

29
Q

What happens to glycogen in GSD III?

A

Increased amount, short outer branches

30
Q

What happens to glycogen in GSD IV?

A

Normal amount, Long outer branches

31
Q

What happens to glycogen in GSD V?

A

Moderate increase in amount, normal sturcture

32
Q

What happens to glycogen in GSD VI?

A

Increased amount, normal structure

33
Q

What happens to glycogen in GSD VII?

A

Increased Amount, normal structure

34
Q

What happens to glycogen in GSD VIII?

A

Increased Amount, normal structure

35
Q

Which GSDs demonstrate normal structure?

A

1, 2, 5-8

36
Q

Which GSDs have average increase in amount?

A

1, 3, 6-8

37
Q

Which GSD has longer outer branches?

A

IV

38
Q

Which GSD has short outer branches?

A

III

39
Q

Symptoms of GSD I?

A
  • Hepatomeglia
  • Failure to thrive
  • Sever hypoglycemia
  • Ketosis
  • Hyperlipemia
  • Hyperuricemia
  • High fasting level serum fatty acids
40
Q

Symptoms of GSD II?

A
  • Cardiorespiratory failure

- Death before 2 yo

41
Q

Symptoms of GSD III?

A

Same as type one but milder

42
Q

Symptoms of GSD IV?

A
  • Progressive cirrohosis of liver

- Liver failure usually causes death before age two?

43
Q

Symptoms of GSD V?

A
  • Limited ability for strenuous exercise due to painful cramps
  • Otherwise normal and well developed
44
Q

Symptoms of GSD VI?

A

Type I but milder

45
Q

Symptoms of GSD VII?

A

Like type V

46
Q

Symptoms of GSD VIII?

A
  • Mild liver enlargement

- Mild Hypoglycemia

47
Q

Which GSDs have similiar symptoms?

A
  • 1, 3, 6: 3 & 6 milder

- 5 & 7

48
Q

What GDD has following symptoms:

  • Mild liver enlargement
  • Mild Hypoglycemia
A

VIII

49
Q

What GDD has following symptoms:

  • Limited ability for strenuous exercise due to painful cramps
  • Otherwise normal and well developed
A

VII & V

50
Q

What GDD has following symptoms:

A

VI

51
Q

What GDD has following symptoms:

  • Hepatomeglia
  • Failure to thrive
  • Sever hypoglycemia
  • Ketosis
  • Hyperlipemia
  • Hyperuricemia
  • High fasting level serum fatty acids
A

I, III, VI

52
Q

What GDD has following symptoms:

  • Limited ability for strenuous exercise due to painful cramps
  • Otherwise normal and well developed
A

V

53
Q

What GDD has following symptoms:

  • Progressive cirrohosis of liver
  • Liver failure usually causes death before age two?
A

IV

54
Q

What GDD has following symptoms:

  • Cardiorespiratory failure
  • Death before 2 yo
A

II

55
Q

Name acronym?

A 
Veinte
Purple
Cats
Ate 
My 
Ham

Metabolism (17 decks)

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