Lysosomal Diseases

Question 1

(Lysosomal Disease) Type Ia

Answer 1

Van Gierke Disease

• deficiency in glucose-6-phosphatase –> severe fasting hypoglycemia
• hepato/renomegaly, lactic acidemia, hyperuricemia

Question 2

(Lysosomal Disease) Type II

Answer 2

Pompe disease

• deficiency in acid alpha glucosidase (lysosomal enzyme) that cataolizes glycogen brought to lysosomes
• cardiomegaly, muscle weakness

Question 3

(Lysosomal Disease) Type III

Answer 3

Cori disease

• issue with the debranching enzyme
• limit dextrinosis
• may cause liver fibrosis
• accumulated glycogen has abnormal structure

Question 4

(Lysosomal Disease) Type IV

Answer 4

Anderson Disease (Amylopectinosis)

• issue with liver branching enzyme
• progressive hepatomegaly

Question 5

(Lysosomal Disease) Type V

Answer 5

McArdle Disease

• muscle phosphorylase problem
• exercise intolerance and muscle cramps
• blood lactate won’t rise after anaerobic exercise

Question 6

(Lysosomal Disease) Type VI

Answer 6

Hers disease

• liver phosphorylase
• hepatomegaly
• benign in general
• mild fasting hypoglycemia

Question 7

(Lysosomal Disease) Type VII

Answer 7

Tarui disease

• muscle PFK-1
• similar to McArdle but more severe