Glycogen Storage Diseases Flashcards

1
Q

Von Gierke

A

Glucose-6-Phosphate Deficiency

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2
Q

Pompe

A

1,4 alpha-glucosidase

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3
Q

Cori

A

Debranching Enzyme

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4
Q

Anderson

A

Branching Enzyme

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5
Q

McArdle

A

Glycogen Phosphorylase (muscle)

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6
Q

Hers

A

Glycogen Phosphorylase (liver)

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7
Q

Tarui

A

PFK-1

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8
Q

Phosphorylase b Kinase Deficiency

A

Liver

Increased glycogen with mild liver enlargement and hypoglycemia.

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9
Q

Von Gierke Effects

A

Liver/kidney

Increased glycogen with enlarged liver and severe effects

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10
Q

Pompe Effects

A

All organs

Massive increase in glycogen with death before 2

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11
Q

Cori Effects

A

Muscle/liver

Increases glycogen like in Von Gierke but is milder with short branches

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12
Q

Anderson Effects

A

Liver/Spleen

Normal glycogen level but are found in long branches with death by 2

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13
Q

McArdle Effects

A

Muscle

Moderately increased glycogen in the muscle with inability to exercise

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14
Q

Hers Effects

A

Liver

Increased glycogen with symptoms like Von Gierke but milder

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15
Q

Tarui Effects

A

Muscle

Increased glycogen with symptoms like McArdle

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16
Q

Glycogen Synthase Deficiency

A

Decreased glycogen and will result in hypoglycemia