Glycogen storage diseases Flashcards Preview

Random boards stuff > Glycogen storage diseases > Flashcards

Flashcards in Glycogen storage diseases Deck (13):
1

von gierke's deficient enzyme

Glucose 6 phosphatase

2

inheritance of glycogen storage disease

all autosomal recessive

3

deficient enzyme in pompe's disease

lysosomal a-1,4-glucosidase
(acid maltase)

4

deficient enzyme in cori's disease

debranching enzyme
alpha 1-6 glucosidase

5

deficient enzyme in mcArdle's disease

skeletal muscle glycogen phosphorylase

6

type I glycogen storage

von gierke's

7

type II glycogen storage

Pompe's

8

Type III glycogen storage

Cori's

9

Type V glycogen storage

McArdle's

10

Von gierke presentation

severe hypoglycemia
increased glycogen in liver
increased blood lactate
hepatomegaly

11

Pompe presentation

cardiomegaly, hepatomegaly, hypotonic
normal glucose levels

12

Cori's presentation

Like von gierke, but normal blood lactate
--hypoglycemia
--stunted growth
--hepatomegaly

13

McArdle's presentation

Myoglobinuria and cramping with exercise
Increased muscle glycogen in muscles