glycogen metabolism

Question 1

glycogen storage disease type 0

Answer 1

enzyme: glycogen synthase
organ: liver
symptoms: low blood glucose, high ketone bodies, early death

Question 2

glycogen storage disease type 1a (von gierke’s)

Answer 2

enzyme affected: glucose 6 phosphatase
organ: liver
symptoms: enlarged liver, kidney failure

Question 3

type 1b

Answer 3

enzyme affected: microsomal glucose & 6-phosphate translocase
organ: liver
symptoms: enlarged liver, kidney failure, high suscpebtibility to bacterial infections

Question 4

type 1c

Answer 4

enzyme: microsomal Pi transporter
organ: liver
symptoms: enlarged liver, kidney failure

Question 5

type 2 (pompe’s)

Answer 5

enzyme: lysosomal glucosidase
organ: skeletal and cardiac muscle
symptoms: infantile: death by age 2
juvenile: muscle defects
adult: muscular dystrophy

Question 6

type 3a (cori’s or forbes’s)

Answer 6

enzyme: debranching enzyme
organ: liver, skeletal and cardiac muscles
symptoms: enlarged liver in infants, myopathy

Question 7

type 3b

Answer 7

enzyme: liver debranching enzyme
organ: liver
symptoms: enlarged liver in infants

Question 8

type 4 (Andersen’s)

Answer 8

enzyme: branching enzyme
organ: liver, skeletal muscle
symptoms: enlarged liver and spleen, myoglobin in urine

Question 9

type 5 (mcardle’s)

Answer 9

enzyme: muscle phosphorylase
organ: skeletal muscle
symptoms: exercise induced cramps and pain, myoglobin in urine

Question 10

type 6 (hers’s)

Answer 10

enzyme: liver phosphorylase
organ: liver
symptoms: enlarged liver

Question 11

type 7 (tarui’s)

Answer 11

enzyme: muscle PFK1
organ: muscle, erythrocytes
symptoms: exercise induced cramps and pain, myoglobin in urine and hemolytic anemia

Question 12

type 6b, 8, 9

Answer 12

enzyme: phosphorylase kinase
organ: liver, leukocytes, muscle
symptoms: enlarged liver

Question 13

type 11 (Fanconi-Bickel)

Answer 13

enzyme: glucose transporter (GLUT2)
organ: liver
symptoms: failure to thrive, enlarged liver, rickets, kidney dysfunction