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FHB > Glycogen Storage Diseases > Flashcards

Glycogen Storage Diseases Flashcards

1
Q

GSD I - name?

A

Von Gierke Disease

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2
Q

GSD I - deficiency enzyme?

A

Glucose 6-Phosphatase

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3
Q

GSD I - affected organs?

A

Liver and kidney

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4
Q

GSD II - name?

A

Pompe Disease

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5
Q

GSD II - deficiency enzyme?

A

(1,4) alpha-glucosidase

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6
Q

GSD II - affected organs?

A

All

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7
Q

GSD III - name?

A

Cori Disease

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8
Q

GSD III - deficiency enzyme?

A

Glycogen debranching enzyme

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9
Q

GSD III - affected organs?

A

Muscle and liver

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10
Q

GSD IV - name?

A

Anderson Disease

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11
Q

GSD IV - deficiency enzyme?

A

Glycogen branching enzyme

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12
Q

GSD IV - affected organs?

A

Liver and spleen

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13
Q

GSD V - name?

A

McArdle Disease

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14
Q

GSD V - deficiency enzyme?

A

Phosphorylase

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15
Q

GSD V - affected organs?

A

Muscle

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16
Q

GSD VI - name?

A

Hers Disease

17
Q

GSD VI - deficiency enzyme?

A

Phosphorylase

18
Q

GSD VI - affected organs?

A

Liver

19
Q

GSD VII - name?

A

Tarui Disease

20
Q

GSD VII - deficiency enzyme

A

PFK-1

21
Q

GSD VII - affected organs?

A

Muscle

22
Q

GSD VIII - deficiency enzyme?

A

Phosphorylase b Kinase

23
Q

GSD VIII - affected organs?

A

Liver

24
Q

GSD I, III, VI symptoms

A

Enlarged liver, failure to trhive, severe hypoglycemia, hyperuricemia, gouty arthritis, hyperlipidemia, mental retardation, lactic acidosis (severe in I, mild in III and VI)

25
Q

GSD II symptoms

A

Cardiorespiratory failure, death before age 2

26
Q

GSD IV symptoms

A

Progressive cirrhosis of the liver, death before age 2

27
Q

GSD V and VII symptoms

A

Limited ability to exercise, painful muscle cramps

28
Q

GSD VIII symptoms

A

Mild liver enlargement, mild hypoglycemia

FHB (8 decks)

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