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Clinical Conditions > 3. Metabolism > Flashcards

3. Metabolism Flashcards

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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
How is phenylketonuria treated?
Remove phenylalanine from the diet.
26
How is mental retardation from phenylketonuria prevented?
Heel prick test to screen for condition and immediately modify diet.
27
What is homocysteinuria?
An autosomal recessive condition where there is an absence of cystathione B synthase, leading to homocysteine build-up.
28
Why might homocysteinuria be mistaken for Marfan's syndrome?
The homocysteine build up affects connective tissue and causes similar symptoms and presentation.
29
What is found in the urine in homocysteinuria?
Homocysteine and methionine.
30
How is homocysteinuria managed?
Vitamin B6 stimulates cystathione B synthase, or vitamin B12 stimulates conversion to methionine which is less harmful than homocysteine accumulation.
31
What is hyperlipidaemia?
Deficiency of lipoprotein lipase means chylomicrons aren't broke down and there is increased cholesterol.
32
How can hyperlipidaemia cause pancreatitis?
The increased cholesterol in the blood can block the pancreas and cause inflammation.
33
How is hyperlipidaemia managed?
With a low fat diet.
34
What is hypercholesterolaemia?
High blood cholesterol level from a diet with too much animal fat in it.
35
How is hypercholesterolaemia managed?
Low cholesterol diet or give statins to block HMG-CoA reductase so formation of cholesterol from acetyl CoA is blocked.
36
What is hypoglycaemia and what is it caused by?
<3.0 blood glucose from starvation, insulin overdose, or Atkins diet (no carbs).
37
What is the presentation of hypoglycaemia?
Confusion, dizziness, lethargy, leading to coma and death.
38
How can hypoglycaemia lead to ketoacidosis?
The body burns through all stores to raise blood glucose and this leads to jetoacidosis.
39
How is hypoglycaemia treated?
With fast acting sugar - lucozade if conscious, intramuscular glucagon if unconscious.
40
What is a paracetamol overdose?
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
How does paracetamol overdose lead to death?
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
How can paracetamol overdose be treated?
If within the hour, give activated charcoal. N-acetylcystane acts as glutathione until NAPQI is eliminated.
43
What is diabetes mellitus?
Chronic hyperglycaemia that cause premature death from cardiovascular damage.
44
What causes type I diabetes mellitus?
Autoimmune destruction of B cells in Islets of Langerhans so there is complete loss of insulin production.
45
What causes type II diabetes mellitus?
Resistance to insulin and overloaded pancreas.
46
What is the presentation of diabetes mellitus?
Polydipsia, polyuria, and weight loss.
47
What are the common ages at presentation for the two types of diabetes mellitus?
Type I normally under 18, type II normally over 30.
48
How is diabetes mellitus diagnosed?
HBA1c>6.5%, fasting glucose>7mmol, random plasma glucose >11mmol, glucose tolerance test >11mol.
49
How is type I diabetes mellitus managed?
Intramuscular insulin injection, monitored and regular HBA1c checks.
50
How is type II diabetes mellitus managed?
Diet management, metformin, sulphonylurea, and GLP1 analogues.
51
What are the sequelae of diabetes mellitus?
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
What is diabetic ketoacidosis?
A life threatening complication of type I diabetes mellitus.
53
What causes diabetic ketoacidosis?
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
How is diabetic ketoacidosis treated?
Intravenous glucose is given and insulin, kidneys retain HCO3- to correct pH.
55
What is hypoadrenalism?
Low circulating cortisol levels.
56
What are the causes of hypoadrenalism?
Addison's disease and secondary hypoadrenalism.
57
What is Addison's disease?
Autoimmune destruction of zona fasiculata of the adrenal cortex.
58
What is secondary hypoadrenalism?
Reduced ACTH leads to reduced cortisol levels.
59
What is the presentation of hypoadrenalism?
Weakness, fatigue, malaise, cachexia, abdominal pain, postural hypotension, tachycardia, hyperpigmentation of palmar creases in Addison's, hypoglycaemia.
60
What causes hyperpigmentation of palmar creases in Addison's?
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
How is hypoadrenalism diagnosed?
Serum cortisol is measured, insulin tolerance test, synACTHen.
62
How is hypoadrenalism treated?
Daily cortisol injections and regular checkups.
63
What is Addisonian crisis?
Complete lack of cortisol, from extreme physiological stress.
64
What is the presentation of an Addisonian crisis?
Nausea and vomiting, hypotensive shock and death.
65
What is the treatment of Addisonian crises?
Urgent IV cortisol and fluid management to treat and restore blood pressure.
66
What is hyperadrenalism?
High cortisol levels.
67
What can cause hyperadrenalism?
Cushing's disease (pituitary adenoma), adrenal adenoma, paraneoplastic syndrome, iatrogenic overdose of cortisol.
68
How does Cushing's cause hyperadrenalism?
It's a pituitary adenoma that increases ACTH production and therefore cortisol release.
69
How do adrenal adenomas cause hyperadrenalism?
They increase cortisol production.
70
How does paraneoplastic syndrome cause hyperadrenalism?
Ectopic ACTH producing malignancy so more cortisol.
71
What is the presentation of Cushing's syndrome?
Moonface, Cuhsingoid body type, purple striae on body, hyperglycaemia, hypertension, atrophic limbs, vision problems.
72
How does Cushing's disease cause vision problems?
The pituitary adenoma may be pressing on the optic nerve.
73
How is hyperadrenalism diagnosed?
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
How is hyperadrenalism treated?
Remove tumour surgically if possible or adjust cortisol usage.
75
What is hypothyroidism?
Low T3/4 levels.
76
What causes hypothyroidism?
Hashimoto's, pituiary defect, hypothalamic defect, iodine deficiency.
77
How does Hashimoto's cause hypothyroidism?
Autoimmune antibody blocks TSH.
78
How do pituitary and hypothalamic defects cause hypothyroidism?
Pituitary reduces TSH, hypothalamic reduces TRH.
79
What is the presentation of hypothyroidism?
Cold intolerance, weight gain, lethargy/apathy, constipation, dry skin/dull hair, thyroid goitre.
80
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)?
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
How is hypothyroidism treated?
Hashimoto's - oral thyroxine. Pituitary or hypothalamic defect - investigate with CT/MRI. Iodine deficiency - iodine supplements.
82
What is hyperthyroidism?
High T3/4 levels.
83
What causes hyperthyroidism?
Graves, thyroid adenoma, pituitary adenoma, hypothalamic disorder, thyroxine overdose.
84
How does Graves cause hyperthyroidism?
Autoimmune stimulation of thyroid follicles leading to raised T3/4.
85
How do thyroid and pituitary adenomas cause hyperthyroidism?
Thyroid - excess T3/4 production. | Pituitary - excess TSH production.
86
How does a hypothalamic disorder cause hyperthyroidism?
Excess TRH production.
87
What is the presentation of hyperthyroidism?
Hyperactivity, heat intolerance, weight loss, increased bowel movements, constant fatigue, goitre, exopthalmos.
88
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)?
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
How is hyperthyroidism treated?
Graves - carbimazole, radioactive iodine, or partial thyroidectomy. If from adenoma - investigated and removed.
90
What is gestational diabetes?
Too many anti-insulins in pregnancy lead to resistance and more glucose to placenta lead to B cell hypertrophy.
91
How is gestational diabetes managed?
Diet management or insulin, or corrects naturally at birth.

Clinical Conditions (13 decks)

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