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Pathophysiology > Inborn Metabolism (Exam 1) > Flashcards

Inborn Metabolism (Exam 1) Flashcards

1
Q

pancreas

A

secretes insulin and glucagon in response to changes in blood glucose concentration

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2
Q

brain

A

transports ions to maintain membrane potential; integrates inputs from body and surroundings; sends signals to other organs

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3
Q

liver

A

processes fats, carbohydrates, proteins from diet, synthesizes and distributes lipids, ketone bodies, and glucose for other tissues; converts excess nitrogen to urea

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4
Q

portal vein

A

carries nutrients from intestines to liver

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5
Q

small intestine

A

absorbs nutrients from the diet, moves them into blood or lymphatic slides.

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6
Q

lymphatic system

A

carries lipids from intestine to liver

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7
Q

adipose tissue

A

synthesizes, stores, and mobilizes triacylglycerols

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8
Q

skeletal muscle

A

uses ATP to do mechanical work

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9
Q

what happens during strenuous exercise?

A

lactate builds up in the muscle

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10
Q

acidification of the muscle prevents what

A

continuous strenuous work

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11
Q

where is the lactase transported to?

A

liver and converted to glucose there

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12
Q

what does the cori cycle recycle?

A

NAD+ so glycolysis can continue

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13
Q

energy containing nutrients

A

carbohydrates, fats, proteins

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14
Q

energy depleted end products

A

CO2, H2O, NH3

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15
Q

cell macromolecules

A

proteins, polysaccharides, lipids, nucleic acid

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16
Q

precursor molecules

A

amnio acids, sugars, fatty acids, nitrogenous bases

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17
Q

muscle

A

ATP produced by glycolysis for rapid contraction

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18
Q

phsyiological significance of the cori cycle

A

prevents lactic acidosis in muscle under anaerobic conditions
production of ATP during muscle activity

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19
Q

hexokinase is for the

A

muscle and other tissues

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20
Q

glucose utilization

A

phosphorylation of glucose commits glucose for use by that cell

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21
Q

glucokinase is for the

A

liver

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22
Q

glucokinase has a high

A

Km and a high Vmax for glucose

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23
Q

a large accumulation of what is dangerous? what does it lead to?

A

ketone bodies
metabolic acidosis

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24
Q

in diabetes,

A

insulin does not function properly
glucose levels are insufficient for energy needs
fats are broken down to acetyl-CoA
ketogenesis produces ketone bodies

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25
Q

inborn errors of metabolism

A

disorders in which single gene defects cause clinically significant blocks in metabolic pathways

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26
Q

pathology in metabolic disorders

A

from accumulation of enzyme substrate behind a metabolic block
deficiency of a reaction product

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27
Q

first treatment strategy for metabolic disorders

A

enhance the reduced enzyme activity

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28
Q

absence of glucose 6 phosphate

A

key feature: seizure
pathways affected: glycogen storage
treatment: cornstarch, frequent feeding

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29
Q

muscle glycogen phosphorylase deficiency

A

key feature: muscle pain on exertion
pathway affected: glycogen storage in muscle
treatment: glucose plus decreased exertion

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30
Q

carnitine/acylcarnitine translocate deficiency

A

key feature: seizures
pathway affected: mitochondrial import of fatty acids
treatment: carnitine supplementation and feeding tube

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31
Q

mitochondrial HMG-CoA synthase deficiency

A

key feature: semi comatose, no ketones
pathway affected: synthesizes ketone precursor
treatment: frequent feeding

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32
Q

increase xanthine oxidase activity and ABCG2 deficiency

A

key feature: pain and swelling in the joints, usually in the big toe and foot
pathway affected: chronic heterogenous disorder of urate metabolism
treatment: allopurinol

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33
Q

PKU (phenylketonuria) patho

A

deficiency of the liver enzyme phenylalanine hydroxylase
prevents normal metabolization of phenylalanine

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34
Q

phenylalanine

A

cannot be synthesized by the body and must therefore be consumed in protein rich foods

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35
Q

PKU disorder

A

autosomal recessive disorder caused by mutations in the PAH gene
deficiency of the liver enzyme phenylalanine hydroxylate

36
Q

what cannot be excreted from metabolism in PKU subjects

A

Phenylacetic acid
goes to the brain

37
Q

PKU treatment

A

strictly controlled phenylalanine free diet up to the age of 14
small doses must be supplied

38
Q

why is PKU diet only up to 14 years of age?

A

after this age, growth and development of the brain is not affected by high levels of phenylalanine in the body

39
Q

glycogen phosphorylase

A

breaks glycogen to make glucose every 4 glucose units from a branch point

40
Q

coenzyme for glycogen phosphorylase

A

pyridoxal phosphate
produces G1P

41
Q

activation of glycogen synthase under

A

well fed state by G6P
activation occurs in both liver and muscle

42
Q

what effects glycogen to G1P conversion in the liver

A

glucose, ATP and G6P

43
Q

what effects G1P to glycogen conversion in the liver

A

G6P

44
Q

Glycogen phosphorylase deficiency

A

skeletal muscle, normal liver enzyme
autosomal recessive
leads to myoglobinemia and myoglobinuria

45
Q

Glycogen phosphorylase deficiency effects

A

cramps upon exercise
no rise in blood lactate after exercise

46
Q

Newborn screening

A

neonates are screened for inborn errors of metabolism

47
Q

How is newborn screening done?

A

most commonly, a capillary blood sample is taken by a heel prick and blotted onto absorbent paper

48
Q

important consideration when discussing newborn screening

A

Newborns are not screened for all inborn errors of metabolism. Each state is different in the amount they screen for (NY = 57)

49
Q

Human gene therapy

A

modifies the expression of a gene or to alter the biological properties of living cells for therapeutic use

50
Q

most common gene therapy technique

A

place gene in a vector and introduce into an organism

51
Q

issues with gene therapy

A

there is a lot of problems with delivery

52
Q

how to control symptoms of common inborn errors

A

diet

53
Q

symptoms of common inborn errors

A

developmental delays, weight loss, growth challenges, seizures, etc.

54
Q

uric acid metabolism

A

end product of purine metabolism
xanthine oxidase catalyzes hypoxanthine to xanthine and uric acid

55
Q

hyperuricemia

A

excessive production or inadequate excretion

56
Q

gout is the most common

A

form of inflammatory joint disease in men aged above 40 years old

57
Q

gout

A

chronic heterogenous disorder or urate metabolism

58
Q

result of gout

A

deposition of monosodium urate crystals in the joints and soft tissues, with accompanying inflammation and degenerative consequences

59
Q

HMG-CoA synthase deficiency

A

autosomal recessive inherited disorder of ketone body metabolism
episodes of decomposition (vomiting, lethargy, coma, etc)

60
Q

HMG-CoA synthase deficiency, if untreated, can lead to

A

permanent brain damage and death

61
Q

HMG-CoA pathways

A

forms ketone bodies through HMG-CoA lyase
forms mevalonate for cholesterol synthesis through HMG-CoA reductase

62
Q

HMG-CoA

A

formed in the liver
cholesterol/ketone bodies

63
Q

carnitine-acylcarnitine translocase deficiency most common and gene

A

most common is severe and happens in newborns
caused by mutations in SLC25A20 gene

64
Q

disorder carnitine-acylcarnitine translocase deficiency causes

A

fatty acid oxidation disorder
issue in processing long chain fatty acids

65
Q

Heinz bodies

A

clumps of damaged hemoglobin located on red blood cells
cross linked hemoglobin

66
Q

G6PD class 1

A

enzyme deficiency with chronic non-spherocytic hemolytic anemia

67
Q

G6PD class 2

A

severe enzyme deficiency, less than 10% of normal activity

68
Q

G6PD class 3

A

moderate to mild enzyme deficiency, 10-60% normal activity

69
Q

G6PD class 4

A

very mild or no enzyme deficiency, at least 60% normal activity

70
Q

clinical features pop G6PDH deficiency

A

neonatal jaundice and acute hemolytic anemia
presence of Heinz bodies

71
Q

what is diagnostic for G6PDH deficiency

A

presence of Heinz bodies

72
Q

What is responsible for gout?

A

dysfunctional ABCG2

73
Q

Allopurinol

A

inhibits xanthine oxidase
blocks the conversion of uric acid

74
Q

overexertion

A

excessive production: high serum uric acid and urine uric acid

75
Q

underexcretion

A

inadequate secretion: high serum uric acid, normal/low urine uric acid

76
Q

Two isoforms of G6PD

A

545 aa - inactive
515 aa

77
Q

Ketoneogenesis

A

when glycogen stores are depleted such as during fasting and in undiagnosed diabetics

78
Q

Diabetics have high levels of

A

acetone in their blood –> fruity odor of breath

79
Q

large accumulation of ketone bodies leads to

A

profound metabolic acidosis

80
Q

Psychiologic ketogenesis of fasting and the adaptive ketosis in starvation

A

never progress to life threatening acidosis

81
Q

acetoacetate decarboxylase

A

forms acetone by enzymatic cleavage of acetoacetate

82
Q

PKU disorder prevents

A

normal metabolism of phenylalanine –> tyrosine (and BH4 cofactor)

83
Q

PKU results in

A

accumulation of phenylalanine

84
Q

untreated individuals with PKU give off a

A

musty odor and they excrete large amounts of phenylalanine in their urine

85
Q

Phenylalanine build up in the body to toxic levels

A

causes mental retardation
converted to phenyl acetic acid

86
Q

what are foods with high levels of phenylalanine

A

meat, fish, eggs, cheese, milk products legumes and bread

87
Q

if not diagnosed early,

A

the individual will suffer severe and irreversible brain damage

Pathophysiology (18 decks)

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