Glycogen storage diseases

Question 1

Which enzyme is deficient in Von Gierke Disease type 1?

Answer 1

Glucose 6 phosphatase

Question 2

What are the symptoms in the liver in Von kierke disease

Answer 2

Leads to severe fasting hypoglycaemia as the liver is not producing any glucose to be released into the blood, this leads to increased glycogen in liver, and hepatomegaly

Question 3

What are the symptoms in the kidney in Von kierke disease

Answer 3

Increased glycogen accumulation in the kidney, which leads to renomegaly

Question 4

What is the relation between lactate levels in Von Gierke disease

Answer 4

They increase

Liver delivers glucose to muscle
Muscle delivers lactate to liver

Lactate is converted into pyruvate and then glucose inside the liver, but theres no glucose 6 phosphatase hence no glucose, lactate accumulates

Question 5

What are the symptoms of severe hypoglycaemia between meals

Answer 5

Lethargy, siezures, lactic acidosis

Question 6

What are the levels of triglycerides and uric acid levels in Von Gierke disease

Answer 6

Triglycerides levels increase, and uric acid levels increase which leads to gout

Question 7

What is the treatment for Von Gierke disease?

Answer 7

Frequent oral glucose cornstarch

Question 8

What is avoided in treatment in Von Gierke diseases

Answer 8

Sucrose, lactose, fructose, galactose

They cannot be converted into glucose via gluconeogensis, they accumulate as glucose 6 phosphate

Question 9

What is impaired in Vin gierke disease?

Answer 9

Gluconeogensis, and glycogenolysis

Question 10

What stage does von gierke start?

Answer 10

Infancy

Question 11

Which enzyme is deficient in Pompe disease type 2

Answer 11

Acid maltase

Lysosomal alpha 1,4 glucosidase with alpha 1,6 glucosidase activity

Question 12

What are the findings in patients with Pompe disease

Answer 12

Cardiomegaly, hypertophic cardiomegaly

Hypotonia, excerise intolerance

Enlarged tongue

Question 13

Is there any metabolic abnormality in Pompe disease

Answer 13

No, as the liver is still liberating glucose into the blood between meals due to adequate glucose 6 phosphatase

Question 14

Death occurs at what stage in pompe disease

Answer 14

Infancy due to heart abnormalities

Question 15

In cori disease, which enzyme is deficient

Answer 15

Debranching enzyme

Alpha 1,6 glucosidase

Question 16

Whjch diease is the milder form of von gierke type 1

Answer 16

Cori disease

Question 17

What are the differences between cori diease and von gierke disease

Answer 17

Milder hypoglycaemia but gluconeogensis still in intact

Normal lactate levels because cori cycle still intact

Theres muscle involvement

Question 18

Theres accumulation of what in cori disease

Answer 18

Limit dextrin like structures in cytosol

Question 19

What is intact in cori disease

Answer 19

Gluconeogensis

Question 20

What is the classic presentation of cori disease patient

Answer 20

Infant or child with hypoglycaemia/ hepatomegaly
Hypotonia weakness
Possible cardiomyopathy with hypertrophy

Question 21

Which enzyme is deficient in Mcardle disease type 5

Answer 21

Muscle glycogen phosphorylase

Myophosphorylase

Question 22

What is the relation of glycogen in mcardle disease

Answer 22

Glycogen increases in muscle but muscle cannot break it down- painful muscle cramps

Question 23

What are the symptoms of mcardle disease

Answer 23

Red urine after strenous exercise

Arrythmia from electrolyte abnormalities

Question 24

What are the blood glucose levels in mcardle disease

Answer 24

Typically unaffected

Question 25

What is the hallmark of mcardle disease

Answer 25

Flat venous lactate curve with normal rise in ammonia levels during exercise

Question 26

What is the second wing phenomenon in mcardle disease

Answer 26

Second wing phenomenon noted during exercise due to increased muscular blood flow

Question 27

When does mcardle disease present

Answer 27

Adolescent