Glycogen Storage Diseases Flashcards

1
Q

Type I

A

Von Gierke

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2
Q

Type II

A

Pompe

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3
Q

Type III

A

Cori

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4
Q

Type IV

A

Andersen

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5
Q

Type V

A

McArdle

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6
Q

Type VI

A

Her

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7
Q

Type VII

A

Tarui

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8
Q

Glycogen deposits in liver

A

Von Gierke

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9
Q

Systemic, including cardiomegaly

A

Pompe

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10
Q

Stunted growth, controllable

A

Cori

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11
Q

Liver and heart failure, normal at birth, subsequent deterioration

A

Andersen

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12
Q

Muscle cramps, pain and weakness, MILDEST

A

McArdle

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13
Q

Glycogen deposits in liver, NO known treatment

A

Her

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14
Q

Glycogen deposits in skeletal muscles, hemolysis of RBCs

A

Tarui

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15
Q

Deficiency: Von Gierke

A

Glucose 6 phosphatase

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16
Q

Deficiency: Pompe

A

Lysosomal alpha 1,4 glucosidase

17
Q

Deficiency: McArdle

A

Muscle glycogen phosphorylase

18
Q

Severe hypogly on fasting

A

Von Gierke

19
Q

Kidney and intestines affected

A

Von Gierke

20
Q

Dying as infants, to as long as 20 yrs

A

Pompe

21
Q

Deficiency: Her

A

Hepatic glycogen phosphorylase

22
Q

Deficiency: Andersen

A

Branching enzyme

23
Q

Deficiency: Cori

A

Debranching enzyme