Glycogen Storage Diseases

Question 1

Type IA- Von Gierke’s

Answer 1

Glucose-6-phosphatase

Question 2

Type IB- Von Gierke

Answer 2

Glucose-6-phosphate transporter

Question 3

Type II- Pompe

Answer 3

A-1,4, glycosidase (lysosomal), large increase of glycogen

Question 4

Type III- Cori

Answer 4

Debranching enzyme- like type I but milder

Question 5

Type IV- Anderson

Answer 5

Branching enzyme, long branches fatal

Question 6

Type V- McArdle

Answer 6

Phosphorylase deficiency (muscle) exercise problems and cramps

Question 7

Type VI- Hers

Answer 7

Phosphorylase issues (liver) like type 1 but milder

Question 8

Type VII- Tarui’s

Answer 8

PFK1 deficiency in muscle, tike type 5 but need fructose to enter pathway after

Question 9

I cell disease

Answer 9

Problem with the M6P receptor

Question 10

Niacin (B3) deficiency

Answer 10

Pellegra, Dermatitis, diarrhea, dementia, precursor the NADH

Question 11

Thiamine (B1) deficiency

Answer 11

COAT RACK, ophthalmoplegia, ataxia, confusion

Retrograde amnesia, anterograde amnesia, confabulations

Needed in PDH

Question 12

Riboflavin (Vitamin B2) deficiency

Answer 12

Glossitis and Cheilosis, precursor to FAD

Question 13

Arsenic

Answer 13

Targets lipoate in PDH, aKGDH and G3P DH

Question 14

Mature onset diabetes of the young

Answer 14

Defect in glucokinase, can’t make that much insulin

Question 15

G6Pase deficiency

Answer 15

Red cell damage (Heinz bodies) anemia in response to drugs etc

Question 16

Chronic granulomatous disease (CGD)

Answer 16

Defect in NADPH oxidase, affects neutrophils, chronic infection

Question 17

ADH2*2

Answer 17

Common in Asian populations, more active (higher V,ax)

Question 18

ALDH2*2

Answer 18

Common in Asian populations, less active (acetaldehyde build up)