Conditions Q5 Flashcards

1
Q

Wet Beriberi disease is a type of

A

Thiamine deficiency

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2
Q

Thiamine deficiency causes impairment of this

A

Pyruvate dehydrogenase

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3
Q

Wernicke-Korsakoff syndrome is a type of

A

Thiamine deficiency

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4
Q

Two characterizations of Wernicke-Korsakoff syndrome

A

Wernicke encephalopathy (reversible mental derangements and delirium)
Korsakoff pyschosis (chronic stage)

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5
Q

Characteristic of Wernicke-Korsakoff syndrome that describes reversible mental derangements and delirium

A

Wernicke encephalopathy

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6
Q

Characteristic of Wernicke-Korsakoff syndrome that describes the chronic stage

A

Korsakoff psychosis

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7
Q

3 main symptoms of thiamine deficiency

A

Energy deficiency
Lactic acidosis
Neurological damage

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8
Q

Condition caused by mutations in one of 30+ different genes involved in energy production in the mitochondria

A

Leigh Syndrome

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9
Q

Leigh syndrome largely affects this part of the body

A

Neurological

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10
Q

Does Wernicke-Korsakoff syndrome involve lactic acidosis?

A

Yes

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11
Q

Does Leigh Syndrome involve lactic acidosis?

A

Yes

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12
Q

Arsenite inhibits enzymes using this molecule

A

Lipoic acid

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13
Q

Enzymes inhibited by arsenite

A

Pyruvate dehydrogenase
Alpha-ketoglutarate dehydrogenase

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14
Q

Condition caused by deficiency in glucose-6-phosphatase or its transport system

A

Type I: Von Gierke disease

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15
Q

Condition caused by deficiency in alpha-1,4-glucosidase

A

Type II: Pompe disease

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16
Q

Condition caused by deficiency in Amylo-1,6-glucosidase (glycogen debranching enzyme)

A

Type III: Cori disease

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17
Q

Condition caused by deficiency in branching enzyme (alpha-1,4 –> alpha-1,6)

A

Type IV: Andersen disease

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18
Q

Condition caused by deficiency in glycogen phosphorylase in muscle

A

Type V: McArdle disease

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19
Q

Condition caused by deficiency in glycogen phosphorylase in liver

A

Typce VI: Hers disease

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20
Q

Condition caused by deficiency in phosphofructokinase in muscle

A

Type VII

21
Q

Condition caused by deficiency in phosphofructokinase in liver

A

Type VIII

22
Q

Organ(s) affected in Type I: Von Gierke disease

A

Liver and kidney

23
Q

Organ(s) affected in Type II: Pompe disease

A

All organs

24
Q

Organ(s) affected in Type III: Cori disease

A

Muscle and liver

25
Q

Organ(s) affected in Type IV: Andersen disease

A

Liver and spleen

26
Q

Organ(s) affected in Type V: McArdle disease

A

Muscle

27
Q

Organ(s) affected in Type VI: Hers disease

A

Liver

28
Q

Organ(s) affected in Type VII

A

Muscle

29
Q

Organ(s) affected in Type VIII

A

Liver

30
Q

Effect on glycogen amount/structure in Type I: Von Gierke disease

A

Increased amount
Normal structure

31
Q

Effect on glycogen amount/structure in Type II: Pompe disease

A

Massive increase in amount
Normal structure

32
Q

Effect on glycogen amount/structure in Type III: Cori disease

A

Increased amount
Shorter outer branches

33
Q

Effect on glycogen amount/structure in Type IV: Andersen disease

A

Normal amount
Very long outer branches

34
Q

Effect on glycogen amount/structure in Type V: McArdle disease

A

Moderately increased amount
Normal structure

35
Q

Effect on glycogen amount/structure in Type VI: Hers disease

A

Increased amount
Normal structure

36
Q

Effect on glycogen amount/structure in Type VII

A

Increased amount
Normal structure

37
Q

Effect on glycogen amount/structure in Type VIII

A

Increased amount
Normal structure

38
Q

Condition characterized by limited ability to perform strenuous exercise because of painful muscle cramps

A

Type V: McArdle disease

39
Q

Condition characterized by massive enlargement of liver, failure to thrive, severe hypoglycemia, ketosis, hyperuricemia, hyperlipidemia

A

Type I: Von Gierke disease

40
Q

Condition characterized by progressive cirrhosis of the liver, and liver failure usually causes death before age 2

A

Type IV: Andersen disease

41
Q

Enzyme deficient in Type V: McArdle syndrome

A

Skeletal muscle glycogen phosphorylase

42
Q

Enzyme deficient in Type VI: Hers disease

A

Liver glycogen phosphorylase

43
Q

Enzyme deficient in Type II: Pompe disease

A

Lysosomal alpha(1–>4) glucosidase

44
Q

Enzyme deficient in Type III: Cori disease

A

4:4 transferase and/or 1:6 glucosidase

45
Q

Enzyme deficient in Type Ia: Von Gierke disease

A

Glucose-6-phosphatase

46
Q

Enzyme deficient in Type Ib

A

Glucose-6-phosphate translocase

47
Q

Enzyme deficient in Type VII

A

Muscle phosphofructokinase

48
Q

Enzyme deficient in Type VIII

A

Liver phosphofructokinase