Glycogen diseases

Question 1

Glucose-6-Phosphatase deficiency?

Answer 1

Von Gierke diseases (I)

Question 2

Von Gierke (I). What glycemia?

Answer 2

severe fasting hypoglycemia

Question 3

Von Gierke (I). Where is increased glycogen?

Answer 3

In liver and kidney

Question 4

Von Gierke (I). What organs enlarged?

Answer 4

Hepatomegaly and renomegaly

Question 5

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

Answer 5

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

Question 7

Von Gierke (I). What enzyme deficiency?

Answer 7

Glucose-6-Phosphatase

Question 8

Hepatomegaly and renomegaly

Answer 8

Von Gierke (I)

Question 9

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

Answer 9

Von Gierke (I)

Question 10

incr. Tg –> doll like face?

Answer 10

Von Gierke (I)

Question 11

Von Gierke (I) treatment?

Answer 11

frequent oral glucose/cornstarch

Question 12

Von Gierke (I). What to avoid?

Answer 12

fructose and galactose

Question 13

Von Gierke (I) what process impaired?

Answer 13

both gluconeogenesis and glycogenolysis

Question 14

Impaired both gluconeogenesis and glycogenolysis?

Answer 14

Von Gierke (I)

Question 15

Lack of Branching enzyme?

Answer 15

Andersen (IV) disease

Question 16

Andersen (IV) disease. What enzyme deficiency?

Answer 16

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

Question 17

Andersen (IV) disease. what glycemia?

Answer 17

late in disease hypoglycemia

Question 18

Andersen (IV) disease. Liver?

Answer 18

hepatomegaly, cirrhosis (fatal) –> ascitis

Question 19

Andersen (IV) disease. Failure to thrive in infancy

Answer 19

.

Question 20

Andersen (IV) disease. Musle?

Answer 20

musle weaknes, hypotonia

Question 21

Andersen (IV) disease. Heart?

Answer 21

cardiomyopathy

Question 22

Andersen (IV) disease. What process impaired?

Answer 22

glycogenesis

Question 23

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

Answer 23

Cori (III) disease

Question 24

Cori (III) disease. similar to what diesease?

Answer 24

its milder form of Von Gierke

Question 25

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

Answer 25

Blood lactate level is normal

Question 26

Cori (III) disease. accummulation of what structure?

Answer 26

Limit dextrin-LIKE structures in cytosol

Question 27

Cori (III) disease. What process impaired?

Answer 27

glycogenolysis impaired; gluconeogenesis intact

Question 28

Cori (III) disease. Difference with Von Gierke?

Answer 28

You will have abnormal glycogen structure - super branching structure

Question 29

Limit dextrin-LIKE structures in cytosol?

Answer 29

Cori (III) disease.

Question 30

Deficiency of skeletal muscle GLYCOGEN PHOSPHORYLASE?

Answer 30

McArdle disease (V).

Question 31

McArdle disease (V). What increased in musle?

Answer 31

glycogen

Question 32

McArdle disease (V). clinical?

Answer 32

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

Question 33

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

Answer 33

muscle fatigue disappear after exercise due to increased blood flow

Question 34

McArdle disease (V). Lac of what enzyme?

Answer 34

Deficiency of skeletal muscle GLYCOGEN PHOSPHORYLASE

Question 35

McArdle disease (V). glucose level?

Answer 35

normal

Question 36

McArdle disease (V). lactic?

Answer 36

normal

Question 37

McArdle disease (V). liver involvement?

Answer 37

no liver involvement

Question 38

how is called skeletal muscle glycogen phosphorylase?

Answer 38

myophosphorylase

Question 39

McArdle disease (V). hallmark?

Answer 39

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

Question 40

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

Answer 40

McArdle disease (V).

Question 41

McArdle disease (V). what process impaired?

Answer 41

glycogenolysis

Question 42

Lack of hepatic glycogen phosphorylase?

Answer 42

Her's disease (VI)

Question 43

Her's disease (VI). clinical?

Answer 43

hepatomegaly, fasting hypoglycemia, ketosis, hyperlipidemia

Question 44

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

Answer 44

glycogenolysis

Question 45

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

Answer 45

Pompe disease (II)

Question 46

Pompe disease (II) what enzyme deficiency?

Answer 46

Lysosomal acid alpha-1,4 glucosidase (acid maltase) with alpha 1,6- glucosidase deficiency AKA lack of debranching enzyme in Lysosome

Question 47

Pompe disease (II). What process impaired?

Answer 47

glycogenolysis

Question 48

Pompe disease (II). clinical?

Answer 48

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

Question 49

McArdle disease (V). How to alleviate exercises?

Answer 49

consume simple sugars before beginning physical activity

Question 50

Pompe disease (II). Glikemija?

Answer 50

bloog glucose is normal

Question 51

Pompe disease (II). key distinguishing feature?

Answer 51

biopsy shows accumulationation of glycogen in LYSOSOMES