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Clinical Conditions > 3. Metabolism > Flashcards

3. Metabolism Flashcards

1
Q

What is galactosaemia?

A

An autosomal recessive condition that means galactose can’t be normally metabolised.

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2
Q

What is classic galactosaemia?

A

Galactokinase deficiency means there is no conversion of galactose to galactose 1-P so galactose builds up and is excreted in urine or is converted to aldose reductose and depletes NADPH.

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3
Q

How can classic galactosaemia lead to cataracts formation?

A

The galactose isn’t metabolised so is converted to aldose reductose, which depletes NADPH levels. This means free SH aren’t maintained and disulphide bridges form, leading to cataracts.

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4
Q

What is non-classic galactosaemia?

A

Galactose-1-P uridyl transferase deficiency leads to a build up of galactose-1-P.

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5
Q

How can non-classic galactosaemia lead to death?

A

It leads to a build up of galactose-1-P which is hepatotoxic and can lead to death.

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6
Q

How is galctosaemia managed?

A

Diet avoid lactose and galactose.

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7
Q

What is glucose-6-phosphate-dehydrogenase deficiency?

A

An X linked recessive condition that causes haemolytic anaemia.

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8
Q

What pathway is G6PD an important enzyme for?

A

Pentose phosphate pathway.

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9
Q

How does G6PD deficiency lead to haemolytic anaemia?

A

G6PD is the main enzyme in the pentose phosphate pathway, which is a main source of NADH so there is a deficiency of NADH. This means Heinz bodies form and there is haemolytic anaemia.

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10
Q

What drug should be avoided with a G6PD deficiency and why?

A

Primaquine, it makes reactive oxygen species and worsen symptoms.

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11
Q

What is marasmus?

A

Total energy malnutrition so the body has broken down fat and muscle.

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12
Q

What is the presentation of marasmus?

A

Emaciated appearance, diarrhoea, anaemia, thin and dry hair.

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13
Q

What is Kwashiorkor?

A

Adequate energy intake, but no protein, and no LDLs.

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14
Q

How does Kwashiorkor cause fatty liver?

A

No LDLs so fatty liver.

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15
Q

What is the presentation of Kwashiorkor?

A

Fatty liver, oedema from low albumin, apathetic,, lethargic, ascites.

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16
Q

How is Kwashiorkor treated?

A

Give protein being aware of refeeding syndrome.

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17
Q

What is lactose intolerance?

A

Not enough/defective lactase enzyme leads to lactose not being metabolised.

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18
Q

What is the sequelae of lactose intolerance?

A

Lactose isn’t broken down so persists to the large intestines and causes flatulence, diarrhoea, and cramps.

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19
Q

What is lactate dehydrogenase deficiency?

A

Lack of lactate dehydrogenase which means lactose isn’t converted to pyruvate.

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20
Q

What is the consequence of lactate dehydrogenase deficiency?

A

Build up of lactose so lactic acidosis.

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21
Q

What is cyanide poisoning?

A

Non-competitive inhibition of cytochrome C oxidase, stopping oxidative phosphorylation.

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22
Q

How does cyanide poisoning cause death?

A

Cytochrome C oxidase is inhibited so there is no regeneration of NAD+, NADP+, or FAD+ so oxidative phosphorylation stops, and death follows.

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23
Q

What is phenylketonuria?

A

An autosomal recessive condition that has a lack of phenylalanine hydroxylase which leads to a build up of phenylalanine.

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24
Q

How does phenylketonuria cause mental retardation?

A

Phenylalanine isn’t broken down so is converted to phenylpyruvate which interferes with brain metabolism and causes retardation.

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25
Q

How is phenylketonuria treated?

A

Remove phenylalanine from the diet.

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26
Q

How is mental retardation from phenylketonuria prevented?

A

Heel prick test to screen for condition and immediately modify diet.

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27
Q

What is homocysteinuria?

A

An autosomal recessive condition where there is an absence of cystathione B synthase, leading to homocysteine build-up.

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28
Q

Why might homocysteinuria be mistaken for Marfan’s syndrome?

A

The homocysteine build up affects connective tissue and causes similar symptoms and presentation.

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29
Q

What is found in the urine in homocysteinuria?

A

Homocysteine and methionine.

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30
Q

How is homocysteinuria managed?

A

Vitamin B6 stimulates cystathione B synthase, or vitamin B12 stimulates conversion to methionine which is less harmful than homocysteine accumulation.

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31
Q

What is hyperlipidaemia?

A

Deficiency of lipoprotein lipase means chylomicrons aren’t broke down and there is increased cholesterol.

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32
Q

How can hyperlipidaemia cause pancreatitis?

A

The increased cholesterol in the blood can block the pancreas and cause inflammation.

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33
Q

How is hyperlipidaemia managed?

A

With a low fat diet.

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34
Q

What is hypercholesterolaemia?

A

High blood cholesterol level from a diet with too much animal fat in it.

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35
Q

How is hypercholesterolaemia managed?

A

Low cholesterol diet or give statins to block HMG-CoA reductase so formation of cholesterol from acetyl CoA is blocked.

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36
Q

What is hypoglycaemia and what is it caused by?

A

<3.0 blood glucose from starvation, insulin overdose, or Atkins diet (no carbs).

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37
Q

What is the presentation of hypoglycaemia?

A

Confusion, dizziness, lethargy, leading to coma and death.

38
Q

How can hypoglycaemia lead to ketoacidosis?

A

The body burns through all stores to raise blood glucose and this leads to jetoacidosis.

39
Q

How is hypoglycaemia treated?

A

With fast acting sugar - lucozade if conscious, intramuscular glucagon if unconscious.

40
Q

What is a paracetamol overdose?

A

Where the enzyme pathway to deal with paracetamol is saturated (all glucoronic acid is conjugated) so paracetamol enters a second pathway which produces the hepatotoxic NAPQI.

41
Q

How does paracetamol overdose lead to death?

A

The secondary pathway to deal with paracetamol produces NAPQI which is hepatotoxic. Glutathione tries to break down NAPQI so there is a depleted glutathione store and no defence against reactive oxygen species, causing death.

42
Q

How can paracetamol overdose be treated?

A

If within the hour, give activated charcoal. N-acetylcystane acts as glutathione until NAPQI is eliminated.

43
Q

What is diabetes mellitus?

A

Chronic hyperglycaemia that cause premature death from cardiovascular damage.

44
Q

What causes type I diabetes mellitus?

A

Autoimmune destruction of B cells in Islets of Langerhans so there is complete loss of insulin production.

45
Q

What causes type II diabetes mellitus?

A

Resistance to insulin and overloaded pancreas.

46
Q

What is the presentation of diabetes mellitus?

A

Polydipsia, polyuria, and weight loss.

47
Q

What are the common ages at presentation for the two types of diabetes mellitus?

A

Type I normally under 18, type II normally over 30.

48
Q

How is diabetes mellitus diagnosed?

A

HBA1c>6.5%, fasting glucose>7mmol, random plasma glucose >11mmol, glucose tolerance test >11mol.

49
Q

How is type I diabetes mellitus managed?

A

Intramuscular insulin injection, monitored and regular HBA1c checks.

50
Q

How is type II diabetes mellitus managed?

A

Diet management, metformin, sulphonylurea, and GLP1 analogues.

51
Q

What are the sequelae of diabetes mellitus?

A

Diabetic neuropathy leading to diabetic foot, external ear and necrotic face infections. Diabetic nephropathy, cardiovascular damage (leading to heart attack and strokes), diabetic retinopathy, diabetic ketoacidosis.

52
Q

What is diabetic ketoacidosis?

A

A life threatening complication of type I diabetes mellitus.

53
Q

What causes diabetic ketoacidosis?

A

Lack of insulin activates HMG-CoA-lyase so acetly CoA is made and ketones which lower blood pH so enzymes are denatured, leading to death.

54
Q

How is diabetic ketoacidosis treated?

A

Intravenous glucose is given and insulin, kidneys retain HCO3- to correct pH.

55
Q

What is hypoadrenalism?

A

Low circulating cortisol levels.

56
Q

What are the causes of hypoadrenalism?

A

Addison’s disease and secondary hypoadrenalism.

57
Q

What is Addison’s disease?

A

Autoimmune destruction of zona fasiculata of the adrenal cortex.

58
Q

What is secondary hypoadrenalism?

A

Reduced ACTH leads to reduced cortisol levels.

59
Q

What is the presentation of hypoadrenalism?

A

Weakness, fatigue, malaise, cachexia, abdominal pain, postural hypotension, tachycardia, hyperpigmentation of palmar creases in Addison’s, hypoglycaemia.

60
Q

What causes hyperpigmentation of palmar creases in Addison’s?

A

POMC breaks down into ACTH and a-MSH. So to raise cortisol, more ACTH is needed and more POMC is broken down, but this means more a-MSH which stimulates melanocytes in the palmar creases, causing darkened skin there.

61
Q

How is hypoadrenalism diagnosed?

A

Serum cortisol is measured, insulin tolerance test, synACTHen.

62
Q

How is hypoadrenalism treated?

A

Daily cortisol injections and regular checkups.

63
Q

What is Addisonian crisis?

A

Complete lack of cortisol, from extreme physiological stress.

64
Q

What is the presentation of an Addisonian crisis?

A

Nausea and vomiting, hypotensive shock and death.

65
Q

What is the treatment of Addisonian crises?

A

Urgent IV cortisol and fluid management to treat and restore blood pressure.

66
Q

What is hyperadrenalism?

A

High cortisol levels.

67
Q

What can cause hyperadrenalism?

A

Cushing’s disease (pituitary adenoma), adrenal adenoma, paraneoplastic syndrome, iatrogenic overdose of cortisol.

68
Q

How does Cushing’s cause hyperadrenalism?

A

It’s a pituitary adenoma that increases ACTH production and therefore cortisol release.

69
Q

How do adrenal adenomas cause hyperadrenalism?

A

They increase cortisol production.

70
Q

How does paraneoplastic syndrome cause hyperadrenalism?

A

Ectopic ACTH producing malignancy so more cortisol.

71
Q

What is the presentation of Cushing’s syndrome?

A

Moonface, Cuhsingoid body type, purple striae on body, hyperglycaemia, hypertension, atrophic limbs, vision problems.

72
Q

How does Cushing’s disease cause vision problems?

A

The pituitary adenoma may be pressing on the optic nerve.

73
Q

How is hyperadrenalism diagnosed?

A

Serum cortisol, dexamethasone suppression test only affects pituitary adenomas so diagnosis Cushing’s, serum ACTH high in pituitary or ectopic tumour but low in adrenal tumour.

74
Q

How is hyperadrenalism treated?

A

Remove tumour surgically if possible or adjust cortisol usage.

75
Q

What is hypothyroidism?

A

Low T3/4 levels.

76
Q

What causes hypothyroidism?

A

Hashimoto’s, pituiary defect, hypothalamic defect, iodine deficiency.

77
Q

How does Hashimoto’s cause hypothyroidism?

A

Autoimmune antibody blocks TSH.

78
Q

How do pituitary and hypothalamic defects cause hypothyroidism?

A

Pituitary reduces TSH, hypothalamic reduces TRH.

79
Q

What is the presentation of hypothyroidism?

A

Cold intolerance, weight gain, lethargy/apathy, constipation, dry skin/dull hair, thyroid goitre.

80
Q

What are the blood results for TRH, TSH, and T3/4 for the different causes of hypothyroidism (Hashimoto’s, pituitary defect, hypothalamic defect, iodine deficiency)?

A

Hashimoto’s - high TRH and TSH, low T3/4.
Pituitary defect - high TRH, low TSH and T3/4.
Hypothalamic defect - low TRH, TSH, and T3/4.
Iodine deficiency - high TSH and TSH, low T3/4.

81
Q

How is hypothyroidism treated?

A

Hashimoto’s - oral thyroxine.
Pituitary or hypothalamic defect - investigate with CT/MRI.
Iodine deficiency - iodine supplements.

82
Q

What is hyperthyroidism?

A

High T3/4 levels.

83
Q

What causes hyperthyroidism?

A

Graves, thyroid adenoma, pituitary adenoma, hypothalamic disorder, thyroxine overdose.

84
Q

How does Graves cause hyperthyroidism?

A

Autoimmune stimulation of thyroid follicles leading to raised T3/4.

85
Q

How do thyroid and pituitary adenomas cause hyperthyroidism?

A

Thyroid - excess T3/4 production.

Pituitary - excess TSH production.

86
Q

How does a hypothalamic disorder cause hyperthyroidism?

A

Excess TRH production.

87
Q

What is the presentation of hyperthyroidism?

A

Hyperactivity, heat intolerance, weight loss, increased bowel movements, constant fatigue, goitre, exopthalmos.

88
Q

HowWhat are the blood results for TRH, TSH, and T3/4 for the different causes of hyperthyroidism (Graves, thyroid adenoma, pituitary adenoma, hypothalamic disorder, thyroxine overdose)?

A

Graves - low TRH and TSH, high T3/4.
Thyroid adenoma - low TRH and TSH, high T3/4.
Pituitary adenoma - low TRH, high TSH and T3/4.
Hypothalamic disorder - high TRH, TSH, and T3/4.
Thyroxine overdose - low TRH and TSH, high T3/4.

89
Q

How is hyperthyroidism treated?

A

Graves - carbimazole, radioactive iodine, or partial thyroidectomy.
If from adenoma - investigated and removed.

90
Q

What is gestational diabetes?

A

Too many anti-insulins in pregnancy lead to resistance and more glucose to placenta lead to B cell hypertrophy.

91
Q

How is gestational diabetes managed?

A

Diet management or insulin, or corrects naturally at birth.

Clinical Conditions (13 decks)

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