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1 STEP Uworld biochemistry > Glycogen diseases > Flashcards

Glycogen diseases Flashcards

1
Q

Glucose-6-Phosphatase deficiency?

A

Von Gierke diseases (I)

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2
Q

Von Gierke (I). What glycemia?

A

severe fasting hypoglycemia

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3
Q

Von Gierke (I). Where is increased glycogen?

A

In liver and kidney

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4
Q

Von Gierke (I). What organs enlarged?

A

Hepatomegaly and renomegaly

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5
Q

Von Gierke (I). What substances increased in blood?

A

lactate; TG (hyperlipidemia), uric acid (gout)

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6
Q
A
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7
Q

Von Gierke (I). What enzyme deficiency?

A

Glucose-6-Phosphatase

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8
Q

Hepatomegaly and renomegaly

A

Von Gierke (I)

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9
Q

lactate; TG (hyperlipidemia), uric acid (gout)?

A

Von Gierke (I)

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10
Q

incr. Tg –> doll like face?

A

Von Gierke (I)

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11
Q

Von Gierke (I) treatment?

A

frequent oral glucose/cornstarch

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12
Q

Von Gierke (I). What to avoid?

A

fructose and galactose

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13
Q

Von Gierke (I) what process impaired?

A

both gluconeogenesis and glycogenolysis

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14
Q

Impaired both gluconeogenesis and glycogenolysis?

A

Von Gierke (I)

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15
Q

Lack of Branching enzyme?

A

Andersen (IV) disease

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16
Q

Andersen (IV) disease. What enzyme deficiency?

A

Lack of Branching enzyme
(no alpha 1,6 bonds)
accummulates long glycogen molecules that are not branched

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17
Q

Andersen (IV) disease. what glycemia?

A

late in disease hypoglycemia

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18
Q

Andersen (IV) disease. Liver?

A

hepatomegaly, cirrhosis (fatal) –> ascitis

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19
Q

Andersen (IV) disease. Failure to thrive in infancy

A

.

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20
Q

Andersen (IV) disease. Musle?

A

musle weaknes, hypotonia

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21
Q

Andersen (IV) disease. Heart?

A

cardiomyopathy

22
Q

Andersen (IV) disease. What process impaired?

A

glycogenesis

23
Q

lack of DEbranching (alpha-1,6- glucosidase)?

A

Cori (III) disease

24
Q

Cori (III) disease. similar to what diesease?

A

its milder form of Von Gierke

25
Q

Cori (III) disease. what is normal compared to Von Gierke?

A

Blood lactate level is normal

26
Q

Cori (III) disease. accummulation of what structure?

A

Limit dextrin-LIKE structures in cytosol

27
Q

Cori (III) disease. What process impaired?

A

glycogenolysis impaired; gluconeogenesis intact

28
Q

Cori (III) disease. Difference with Von Gierke?

A

You will have abnormal glycogen structure - super branching structure

29
Q

Limit dextrin-LIKE structures in cytosol?

A

Cori (III) disease.

30
Q

Deficiency of skeletal muscle GLYCOGEN PHOSPHORYLASE?

A

McArdle disease (V).

31
Q

McArdle disease (V). What increased in musle?

A

glycogen

32
Q

McArdle disease (V). clinical?

A

painful muscle cramp, rhabdomyolysis –> myoglobinuria: with strenous exercises
Arrythmia due to abnormal electrolytes

33
Q

McArdle disease (V). what is second wind phenomenom?

A

muscle fatigue disappear after exercise due to increased blood flow

34
Q

McArdle disease (V). Lac of what enzyme?

A

Deficiency of skeletal muscle GLYCOGEN PHOSPHORYLASE

35
Q

McArdle disease (V). glucose level?

A

normal

36
Q

McArdle disease (V). lactic?

A

normal

37
Q

McArdle disease (V). liver involvement?

A

no liver involvement

38
Q

how is called skeletal muscle glycogen phosphorylase?

A

myophosphorylase

39
Q

McArdle disease (V). hallmark?

A

flat venous lactate curve with normal rise in ammonia levels during exercise

40
Q

flat venous lactate curve with normal rise in ammonia levels during exercise

A

McArdle disease (V).

41
Q

McArdle disease (V). what process impaired?

A

glycogenolysis

42
Q

Lack of hepatic glycogen phosphorylase?

A

Her’s disease (VI)

43
Q

Her’s disease (VI). clinical?

A

hepatomegaly, fasting hypoglycemia, ketosis, hyperlipidemia

44
Q

Her’s disease (VI). What process is impaired?

A

glycogenolysis

45
Q

Lysosomal acid alpha-1,4 glucosidase (acid maltase) with alpha 1,6- glucosidase deficiency?

A

Pompe disease (II)

46
Q

Pompe disease (II) what enzyme deficiency?

A

Lysosomal acid alpha-1,4 glucosidase (acid maltase) with alpha 1,6- glucosidase deficiency

AKA lack of debranching enzyme in Lysosome

47
Q

Pompe disease (II). What process impaired?

A

glycogenolysis

48
Q

Pompe disease (II). clinical?

A

CARDIOMEGALY!!!!, hypertrophic cardiomyopathy
hypotonia, exercise intolerance.
Macroglossia
+ systemic findings —–> EARLY DEATH

49
Q

McArdle disease (V). How to alleviate exercises?

A

consume simple sugars before beginning physical activity

50
Q

Pompe disease (II). Glikemija?

A

bloog glucose is normal

51
Q

Pompe disease (II). key distinguishing feature?

A

biopsy shows accumulationation of glycogen in LYSOSOMES

1 STEP Uworld biochemistry (13 decks)

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