Clinical aspects of glycogen and fat

Question 1

Give two examples of glycogen storage diseases

Answer 1

von Gierkes disease- glucose 6 phosphatase deficiency

McArdes disease- Muscel glycogen phosphorylase deficiency

Question 2

What can glycogen storage diseases lead to? (3)

Answer 2

liver and muscle affected
excess storage can lead to tissue damage
diminished levels–>hypoglycaemia and poor exercise tolerance

Question 3

What is hyperlipoproteinaeia caused by?

Answer 3

Overproduction or under removal

Question 4

Three clinical signs of hypercholesterolemia

Answer 4

Xanthelasma- yellow patches on eyelid
Tendon xanthoma- Nodules on tendons
Corneal arcus- WHite circle around iris in the eye

Question 5

Treatment for hyperlipoproteinaemias?

Answer 5

First…
Reduced cholesterol and saturated fats in diet. Increased fibre uptake

Increased exercise. Stop smoking

If no response, drugs, statins (Reduce cholesterol synthesis)

Question 6

With hyperlipidaemia, what appearance would the blood sample have?

Answer 6

Cream of tomato soup

after centrifugation, creamy layer on top

Question 7

How long after a meal should chylomicrons be present in the blood?

Answer 7

4-6 hrs

Question 8

Why might chylomicrons be raised for longer than this?

Answer 8

Low lipoprotein lipase activity

Question 9

Why, with someone with low lipoprotein lipase activity, would they have high levels of cholesterol?

Answer 9

Cholesterol remains in the chylomicrons

So increased levels in the blood