Exam3-L28- Glycogen storage disorders

Question 1

What are the consequences of an enzymopathy?

Answer 1

Question 2

How do you remember the GSD classifications?

Answer 2

Question 3

What happens with a glycogen storage disorder?

Answer 3

Question 4

What are the most commonly affected tissues with a glycogen storage disorder? What are the different types and what do they affect?

Answer 4

Question 5

What is the defect with Von Gierke? What is the defect with Cori? What is the defect with McArdle? What is the defect with Pompe?

Answer 5

Question 6

How do you diagnose a glycogen storage disease? What are the diseases?

Answer 6

Question 7

What is the defect with GSD type 0?

Answer 7

Question 8

What is the defect with GSD type 1? What is the clinical manifestation?

Answer 8

Question 9

What is the defect with GSD type 3?

Answer 9

Question 10

What is the defect with GSD type 4? What are the clinical manifestations?

Answer 10

Question 11

What is the defect with GSD type 6? What is the clinical manifestation?

Answer 11

Question 12

What is the presentation like for a deficiency in enzymes associated with muscle glycogenosis?

Answer 12

Question 13

What is the defect with GSD type 5? What are the clinical manifestations?

Answer 13

Question 14

What are the kinds of testing you can do for GSD type 5?

Answer 14

Question 15

What is the CK, lactate, and ammonia levels for a type 5? Why?

Answer 15

Question 16

GDS type 5-What are the symptoms of non-traumatic rhabdomyolysis?

Answer 16

Question 17

GDS type 5- What is the second wind phenomenon? Why do they get this? What is the treatment?

Answer 17

Question 18

What is a GSD type 2 deficiency? Where does glycogen accumulate?

Answer 18

Question 19

What do GDS type 2s share similar characteristics with? Pompe disease exhibit what? What is the treatment?

Answer 19