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Flashcards in Glycogen storage diseases Deck (13)
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1
Q

von gierke’s deficient enzyme

A

Glucose 6 phosphatase

2
Q

inheritance of glycogen storage disease

A

all autosomal recessive

3
Q

deficient enzyme in pompe’s disease

A

lysosomal a-1,4-glucosidase

acid maltase

4
Q

deficient enzyme in cori’s disease

A

debranching enzyme

alpha 1-6 glucosidase

5
Q

deficient enzyme in mcArdle’s disease

A

skeletal muscle glycogen phosphorylase

6
Q

type I glycogen storage

A

von gierke’s

7
Q

type II glycogen storage

A

Pompe’s

8
Q

Type III glycogen storage

A

Cori’s

9
Q

Type V glycogen storage

A

McArdle’s

10
Q

Von gierke presentation

A

severe hypoglycemia
increased glycogen in liver
increased blood lactate
hepatomegaly

11
Q

Pompe presentation

A

cardiomegaly, hepatomegaly, hypotonic

normal glucose levels

12
Q

Cori’s presentation

A

Like von gierke, but normal blood lactate

  • -hypoglycemia
  • -stunted growth
  • -hepatomegaly
13
Q

McArdle’s presentation

A

Myoglobinuria and cramping with exercise

Increased muscle glycogen in muscles