Diabetes, inborn errors of metabolism and superoxides Flashcards

1
Q

two types of Diabetes + definition

A

Type 1- insulin dependent

type 2- insulin non-dependent

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2
Q

explain type 1

A

autoimmune disease where the pancreatic beta cells are destroyed

body thinks the person is in starvation as no insulin is produced but the glucose is still present

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3
Q

type 1 symptoms

A

hypoinsulinaemia, hyperglycaemia, hyperlipidaemia, hyperkeonaemia

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4
Q

explain type 2

A

tissues become insulin resistant

due to too much glucose being consumed that the channels no longer respond to insulin

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5
Q

6 major metabolic disturbances due to diabetes melitus

A

fatty acid mobilisation, hyperketonaemia, hyperglycaemia, polyuria, polydipsia and dehydration

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6
Q

explain fatty acid mobilisation

A

in type 1

no insulin so body believe ts starving

kick starts beta oxidation

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7
Q

explain hyperketonaemia

A

body believes its starving

ketone formation and utilisation

ketones are acidic, makes the blood acidic

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8
Q

side effects of hyperketonaemia

A

diabetic ketoacidosis

nausea, vomiting, smell of acetone

kussmual breathing

dehydration

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9
Q

explain polyuria

A

more urine produced

less glucose moved into cells

more glucose removed in urine, increasing osmolality

more water leaves body goes to the urine

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10
Q

explain polydipsia

A

increased thirst as more water leaving the body as urine

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11
Q

normal fasting glucose

A

4.5-5mmol/L

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12
Q

diabetic fasting glucose

A

more than 7mmol/L

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13
Q

glucose tolerance test explained

A

glucose is given and blood samples taken to determine how quickly it is cleared from blood

patient ingests standard dose of glucose and levels checked two hours later

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14
Q

inborn error of metabolism definition

A

genetic disease where a mutation in a metabolic protein changes its function

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15
Q

two examples of fatty acid metabolism inborn errors

A

carnitine deficiency and MCAD deficiency

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16
Q

explain carnitine deficiency

A

carnitine is used to bring fats into the mitochondria via the carnitine shuttle

carnitine deficiency presents with cardiomyopathy

fatty infiltration of cytosol near organs, muscle weakness, hypoglycaemia

17
Q

explain MCAD deficiency

A

can’t break down fatty acids during fasting

no ketones produced so no energy source for brain to use during fasting

18
Q

example of a long chain fatty acid metabolism disorder explained

A

peroxisomal disorders

unable to break down VLCAs

hypotonia and seizures

19
Q

explain glycogen storage disorders

A

deficiencies and mutations in enzymes linked to glycogen storage and formation

leads to exercise intolerance, cramps

20
Q

what is phenylketonuria?

A

most common inborn error in metabolism that prevents individuals from being able to metabolise phenyl alanine

21
Q

phenyl alanine function

A

converted to tyrosine which can then form fumarate and acetoacetate

22
Q

why is PKU so damaging?

A

in high quantities, phenylalanine turns into toxic phenylpyruvate and phenyllactate

phenylalanine outcompetes other molecules for uptake in the brain

23
Q

PKU treatment

A

eat less phenylalanine

24
Q

urea cycle deficiency explained

A

lack ornithine transcarbamylase

cannot convert carbamoyl phosphate and ornithine to citrulline

increases ammonia concentration leading to death

25
Q

superoxide definition

A

a reactive oxygen species

a compound that contains the superoxide ion O2-

26
Q

how are superoxides produced?

A

reduction of di oxygen

27
Q

how is hydrogen peroxide formed?

A

superoxide and hydrogen ions form hydrogen peroxide and oxygen

28
Q

hydrogen peroxide function

A

intermediate when removing superoxides

29
Q

is hydrogen peroxide toxic?

A

yes, oxidises potions, membrane lipids and DNA

30
Q

Important antioxidant

A

superoxide dismutase

31
Q

superoxide dismutase function

A

enzyme that catalyses the partitioning of superoxide into hydrogen peroxide and oxygen

32
Q

how is hydrogen peroxide broken down?

A

catalase oxidises the substrate using hydrogen peroxide, producing water

33
Q

peroxidase definition

A

enzymes that break up hydrogen peroxide

34
Q

two antioxidant vitamins

A

C and E

35
Q

explain vitamin C function

A

can reduce and neutralise reactive oxygen species

36
Q

explain vitamin E function

A

react with lipid radicals produced in lipid per oxidation chain reactions