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CC 1 > 4.2 GLYCOGEN STORAGE DISEASES > Flashcards

4.2 GLYCOGEN STORAGE DISEASES Flashcards

1
Q

What is the enzyme deficiency in GSD I (Von Gierke Disease)?

A

Glucose-6-phosphatase.

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2
Q

What are the key clinical features of GSD I?

A

Severe hypoglycemia, lactic acidosis, hepatomegaly, hypertriglyceridemia, hyperuricemia.

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3
Q

What is the treatment for GSD I (Von Gierke Disease)?

A

Uncooked cornstarch, frequent feedings, liver/kidney transplant.

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4
Q

What is the enzyme deficiency in GSD II (Pompe Disease)?

A

Lysosomal acid alpha-glucosidase.

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5
Q

What are the key clinical features of GSD II?

A

Cardiomyopathy in infancy, skeletal myopathy in juvenile/adult forms, muscle weakness.

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6
Q

What is the treatment for GSD II (Pompe Disease)?

A

Enzyme replacement therapy (alglucosidase alfa), heart transplant for cardiomyopathy.

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7
Q

What is the enzyme deficiency in GSD III (Cori/Forbes Disease)?

A

Debrancher enzyme (amyloglucosidase).

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8
Q

What are the key clinical features of GSD III?

A

Hepatomegaly, muscle weakness, hypoglycemia

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9
Q

What is the treatment for GSD III (Cori/Forbes Disease)?

A

Uncooked cornstarch, high-protein diet.

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10
Q

What is the enzyme deficiency in GSD IV (Andersen Disease)?

A

Branching enzyme.

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11
Q

What are the key clinical features of GSD IV?

A

Progressive cirrhosis, hepatomegaly, muscle atrophy (neuromuscular form).

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12
Q

What is the treatment for GSD IV (Andersen Disease)?

A

Liver transplantation.

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13
Q

What is the enzyme deficiency in GSD V (McArdle Disease)?

A

Muscle phosphorylase

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14
Q

What are the key clinical features of GSD V?

A

Exercise intolerance, muscle cramps, rhabdomyolysis.

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15
Q

What is the treatment for GSD V (McArdle Disease)?

A

Carbohydrate administration before exercise.

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16
Q

What is the enzyme deficiency in GSD VI (Hers Disease)?

A

Liver phosphorylase

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17
Q

What are the key clinical features of GSD VI?

A

Hypoglycemia, hyperlipidemia, hepatomegaly.

18
Q

What is the treatment for GSD VI (Hers Disease)?

A

Uncooked cornstarch.

19
Q

What is the enzyme deficiency in GSD VII (Tarui Disease)?

A

Phosphofructokinase

20
Q

What are the key clinical features of GSD VII?

A

Muscle cramps, rhabdomyolysis, hemolysis.

21
Q

What is the treatment for GSD VII (Tarui Disease)?

A

Avoid excessive exercise.

22
Q

What is the enzyme deficiency in GSD 0?

A

Glycogen synthase.

23
Q

What are the key clinical features of GSD 0?

A

Fasting hypoglycemia, ketosis, postprandial lactic acidosis.

24
Q

What is the treatment for GSD 0?

A

Frequent protein-rich meals, uncooked cornstarch at bedtime.

25
Q

What is the enzyme deficiency in Fanconi-Bickel Syndrome?

A

Glucose transporter-2.

26
Q

What are the key clinical features of Fanconi-Bickel Syndrome?

A

Hepatomegaly, renal Fanconi syndrome, fasting hypoglycemia.

27
Q

What is the treatment for Fanconi-Bickel Syndrome?

A

Low-carbohydrate, high-protein diet, electrolyte replacement.

28
Q

What is the enzyme deficiency in Fructose 1,6-Bisphosphatase Deficiency?

A

Fructose 1,6-bisphosphatase.

29
Q

What are the key clinical features of Fructose 1,6-Bisphosphatase Deficiency?

A

Hypoglycemia, lactic acidosis, ketosis.

30
Q

What is the treatment for Fructose 1,6-Bisphosphatase Deficiency?

A

Avoid fasting and fructose-containing foods.

31
Q

What is the enzyme deficiency in Phosphoenolpyruvate Carboxykinase Deficiency?

A

Phosphoenolpyruvate carboxykinase.

32
Q

What are the key clinical features of Phosphoenolpyruvate Carboxykinase Deficiency?

A

Hypoglycemia, lactic acidosis, hepatomegaly.

33
Q

What is the treatment for Phosphoenolpyruvate Carboxykinase Deficiency?

A

Avoid fasting, uncooked cornstarch.

34
Q

What is another name for GSD I?

A

Von Gierke Disease.

35
Q

What is another name for GSD II?

A

Pompe Disease.

36
Q

What is another name for GSD III?

A

Cori Disease or Forbes Disease.

37
Q

What is another name for GSD IV?

A

Andersen Disease.

38
Q

What is another name for GSD V?

A

McArdle Disease.

39
Q

What is another name for GSD VI?

A

Hers Disease.

40
Q

What is another name for GSD VII?

A

Tarui Disease.

41
Q

What is another name for GSD VIII/IX?

A

Phosphorylase Kinase Deficiency (for GSD IX).

42
Q

What is another name for GSD 0?

A

Glycogen Synthase Deficiency.

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