ESA 1 Clinical Conditions- Metabolism

Question 1

Which two enzymes could be deficient to cause galactosaemia?

Answer 1

Galactokinase

Galactose-1-phosphate uridyl transferase

Question 2

What are the effects of galactosaemia?

Answer 2

Cataracts- lack of NAPDH to prevent disulfide bonds from forming
Buildup of galactose-1-phosphate is hepatotoxic

Question 3

How can galactosaemia be treated?

Answer 3

Diet- avoid galactose and lactose

Question 4

Give the main effect of G6PD deficiency

Answer 4

Heinz body formation- less NADPH

Question 5

What is marasmus?

Answer 5

Malnutrition from all food groups. Have diarrhoea, thin hair and dry skin. Look emaciated as body has broken down muscle.

Question 6

What is Kwashiorkor?

Answer 6

Adequate energy intake but specific lack of protein.

Question 7

Give 3 features of Kwashiorkor

Answer 7

Develop fatty liver disease due to lack of LDLs.
Oedema due to low albumin levels
Lethargic
Anorexic

Question 8

Give 3 symptoms of lactose intolerance

Answer 8

Diarrhoea
Flatulence
Cramps

Question 9

What is lactose dehydrogenase deficiency?

Answer 9

Lack of lactate dehydrogenase means lactate cannot be converted back to pyruvate. There is a build up of lactic acid.

Question 10

Why is cyanide poisonous?

Answer 10

Non-competitively inhibits cytochrome C oxidase (in EcT) so stops oxidative phosphorylation –> death

Question 11

What is phenylketonuria?

Answer 11

Lack of phenylalanine hydroxylase leads to build up of phenylalanine and a lack of tyrosine. Phenylalanine is converted to phenylpyruvate instead and is excreted in the urine.

Question 12

Why does phenylketonuria lead to poor brain development?

Answer 12

Transporters for essential amino acids in the BBB are blocked so the brain cannot develop properly

Question 13

How is phenylketonuria inherited?

Answer 13

Autosomal recessive

Question 14

How is homocystinuria inherited?

Answer 14

Autosomal recessive

Question 15

What is homocystinuria?

Answer 15

Deficiency of the CBS enzyme causes homocysteine build up. Converted to methionine instead.
Affects connective tissue

Question 16

What is metabolic hyperlipidaemia?

Answer 16

Deficiency of lipoprotein lipase so chylomicrons cannot be broken down.
The high lipid levels block the pancreas and so increase the risk of pancreatitis.

Question 17

What is hypercholesterolaemia?

Answer 17

Too much fat in the diet- increased LDL production

Question 18

Give 3 symptoms of hypolipidaemia

Answer 18

Confusion, dizziness, lethargy

Question 19

What can be given to treat a paracetamol overdose?

Answer 19

N-acetyl cysteine
Activated charcoal (<1 hr)

Question 20

What is Type I diabetes?

Answer 20

Autoimmune destruction of the beta cells in the pancreas

Question 21

What is Type II diabetes?

Answer 21

Resistance to insulin

Question 22

What is diabetic ketoacidosis?

Answer 22

Occurs in Type I diabetics.
Cannot utilise glucose so the body uses gluconeogenesis to break down fats creating an excess of ketones. Ketones are acidic and so lower the pH of the blood.

Question 23

What is Addison’s disease?

Answer 23

Autoimmune destruction of the adrenal cortex or reduced ACTH secretion from the anterior pituitary.

Question 24

Give 3 symptoms of Addison’s disease

Answer 24

Hypotension 
Abdo pain 
Hyperpigmentation 
Weakness
Fatigue 
Weight loss

Question 25

How can Addison's be tested for?

Answer 25

Insulin tolerance test A normal response to insulin lowering glucose is cortisol release. If this does not happen then the patient has Addison's

Question 26

What is an Addisonian crisis?

Answer 26

Acute worsening of Addison's symptoms- complete loss of cortisol Nausea, shock, vomiting, coma, death

Question 27

Give 3 causes for excess cortisol

Answer 27

Pituitary adenoma secreting too much ACTH, leads to excess cortisol release. Adrenal adenoma secreting too much cortisol Ectopic ACTH secreting tumour eg. small cell lung carcinoma.

Question 28

Give 3 symptoms of excess cortisol

Answer 28

``` Central fat redistribution Moon face Striae Weight gain Muscle atrophy ```

Question 29

How is the cause of Cushing's diagnosed?

Answer 29

Dexamethasone suppression test

Question 30

What is Hashimoto's?

Answer 30

Hypothyroidism- autoimmune destruction of thyroid cells

Question 31

Give 3 symptoms of hypothyroidism

Answer 31

``` Weight gain Cold intolerance Lethargy Apathy Constipation Dry skin Goitre ```

Question 32

What is Grave's disease?

Answer 32

Hyperthyroidism- autoimmune activation of the thyroid gland to secrete more T4 and T3.

Question 33

What is gestational diabetes?

Answer 33

Too many anti-insulins (oestrogen, progesterone) | The body becomes too resistant to insulin in pregnancy.