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Revision > ESA 1 Clinical Conditions- Metabolism > Flashcards

ESA 1 Clinical Conditions- Metabolism Flashcards

1
Q

Which two enzymes could be deficient to cause galactosaemia?

A

Galactokinase

Galactose-1-phosphate uridyl transferase

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2
Q

What are the effects of galactosaemia?

A

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

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3
Q

How can galactosaemia be treated?

A

Diet- avoid galactose and lactose

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4
Q

Give the main effect of G6PD deficiency

A

Heinz body formation- less NADPH

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5
Q

What is marasmus?

A

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

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6
Q

What is Kwashiorkor?

A

Adequate energy intake but specific lack of protein.

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7
Q

Give 3 features of Kwashiorkor

A

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

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8
Q

Give 3 symptoms of lactose intolerance

A

Diarrhoea
Flatulence
Cramps

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9
Q

What is lactose dehydrogenase deficiency?

A

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

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10
Q

Why is cyanide poisonous?

A

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

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11
Q

What is phenylketonuria?

A

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.

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12
Q

Why does phenylketonuria lead to poor brain development?

A

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

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13
Q

How is phenylketonuria inherited?

A

Autosomal recessive

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14
Q

How is homocystinuria inherited?

A

Autosomal recessive

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15
Q

What is homocystinuria?

A

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

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16
Q

What is metabolic hyperlipidaemia?

A

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

17
Q

What is hypercholesterolaemia?

A

Too much fat in the diet- increased LDL production

18
Q

Give 3 symptoms of hypolipidaemia

A

Confusion, dizziness, lethargy

19
Q

What can be given to treat a paracetamol overdose?

A 
N-acetyl cysteine
Activated charcoal (<1 hr)
20
Q

What is Type I diabetes?

A

Autoimmune destruction of the beta cells in the pancreas

21
Q

What is Type II diabetes?

A

Resistance to insulin

22
Q

What is diabetic ketoacidosis?

A

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.

23
Q

What is Addison’s disease?

A

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

24
Q

Give 3 symptoms of Addison’s disease

A 
Hypotension 
Abdo pain 
Hyperpigmentation 
Weakness
Fatigue 
Weight loss
25
Q

How can Addison’s be tested for?

A

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

26
Q

What is an Addisonian crisis?

A

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

27
Q

Give 3 causes for excess cortisol

A

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.

28
Q

Give 3 symptoms of excess cortisol

A 
Central fat redistribution 
Moon face
Striae
Weight gain 
Muscle atrophy
29
Q

How is the cause of Cushing’s diagnosed?

A

Dexamethasone suppression test

30
Q

What is Hashimoto’s?

A

Hypothyroidism- autoimmune destruction of thyroid cells

31
Q

Give 3 symptoms of hypothyroidism

A 
Weight gain 
Cold intolerance
Lethargy 
Apathy 
Constipation 
Dry skin 
Goitre
32
Q

What is Grave’s disease?

A

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

33
Q

What is gestational diabetes?

A

Too many anti-insulins (oestrogen, progesterone)

The body becomes too resistant to insulin in pregnancy.

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