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Year 2 CV > Exam2, biochem, choudhury > Flashcards

Exam2, biochem, choudhury Flashcards

1
Q

Patient has muscle weakness with elevated amounts of TGL and primary long chain fatty acids many lipid vacuoles in muscle biopsy probable Dx?

A

carnitine deficiency.

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2
Q

What breaks down TGL and what are the products.

A

hormone sensitive lipase breaks TGL into glycerol and fatty acids.

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3
Q

what stimulates hormone sensitive lipase? inhibits?

A

epi and cortisol inhibited by insulin

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4
Q

where and how is glycerol converted to glucose.

A

in liver, via DHAP (gluconeogenesis)

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5
Q

.what stimulates gluconeogenesis

A

increased glucagon and cortisol

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6
Q

what converts FA to Acetyl CoA and where

A

Beta oxidation in the liver

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7
Q

what is Acetyl CoA used for

A

ketones and kreb cycle

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8
Q

Where are ketones primarily used for energy

A

cardiac muscle and brain tissue

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9
Q

what oxidation is used when Beta oxidation is defective

A

w oxidation, minor catabolic pathway for medium chain fatty acids

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10
Q

what is beta oxidation

A

process whihc FA are broken down in mitochondria to generate Acetylo CoA

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11
Q

how do short and medium chain FA enter mitochondria for beta oxidation

A

.diffuse freely into mitochondria

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12
Q

how do long chain FA eneter mitochondria

A

transported by carnitine shuttle to be oxidized

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13
Q

how do very long chain FA get oxidized

A

peroxisomes

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14
Q

How much energy is required to activate FA

A

2 high energy bonds

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15
Q

how does Long chain FA cross outer mitochondrial membrane

A

FA transporter

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16
Q

what is first enzyme required to activate FA in between mitochondrial layers

A

fatty acyl CoA synthetase that binds FA to CoA

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17
Q

how does FA CoA cross inner mitochondrial membrane

A

it doesnt first CoA is switched for carnitine via the carnitine acyltransferase 1 CPT-1 enzyme then Fa-carnitine gets shuttle across in carnitine transporter

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18
Q

What enzyme is inside mitochondria to convert carnitine back to CoA

A

Carnitine acyltransferase-2 CPT II

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19
Q

what does the converstion of Fa CoA to Acetylo CoA generate

A

FADH2 and NADH

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20
Q

what are signs of a myopathic CPT deficiency

A

muscle aches and weakness myoglobinuria prolonged exercise increased mm TGL

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21
Q

what are signs of MCAD deficiency medium chain acyl CoA dehydrogenase

A

fasting hypoglycemia no ketone bodies C8-C10 acyl carnitines in blood vomiting coma, death

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22
Q

how are CPT I and II deficiencys treated

A

avoiding fasting, dietary restrictions of long chain FA, carnitine supp

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23
Q

Which cPT deficiency is most common and assoc signs?

A

CPT II muscle weakness upon exercise, hyperammonemia,death

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24
Q

what can cause carnitine deficiency

A

inadequate intake inability to metabolize from enzyme deficiency decreaed endogenous synthesis from liver disorder excess loss (diarrhea, diuressis) hereditary disorder of leakage (primary carnitine deficiency) icnreased requirements for carnitine(sepsis) decreased muscle carnitine from mitochondrial impairment

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25
Q

how are carnitine and or CPT deficiencies diagnosed

A

extreme reduction in plasma and muscle carnitine levels hypoglycemia muscle biopsy reveals significant lipid vacuoles

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26
Q

what does fasting ketogenesis tell you about carnitine disorders

A

if it is normal then carnitine transport is normal impaired when dietary carnitine intake interupted

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27
Q

brown urine, muscle pain in arms and legs during soccer (goes away at night) normal stature well fed sent home with recommendation to take dietary carnitine. most likely Dx?

A

CPT-II deficiency

28
Q

what age group does MCAD usually manifest

A

first 3-5 yrs of life

29
Q

what are xanthomas

A

lesions characterized by accumulation of lipid laden macrophages

30
Q

what are the types of primary hyperlipoproteinemia

A

I- familial lipoprotein lipase deficiency II- hyperlipidemia III- familial dysbeta-lipoproteinemia IV-familial hyperTGLemia V

31
Q

what are other causes of hyperlipoproteinemia

A

decreased synthesis of HDL, hepatic lipase deficiency

32
Q

what will type I hyperlipidemia look like

A

severe elevation of chylomicrons in plasma increase plasma TGL levels no increase in plasma cholesterol early childhood with acute pancreatitis eruptive xanthomas

33
Q

steatorhea is indicative of what underlying malfuncntion

A

something wrong with pancreas

34
Q

What causes type IIa hyperlipidemia

A

accumulation LDL from familial LDL-R deficiency and familial defective apo B100`

35
Q

what are signs of type IIa hyperlipidemia

A

increased plasma cholesterol and TGL manifest severe atherosclerosis can have tendinous xanthomas or tuberous and xanthelasmas

36
Q

What causes type IIb hyperlipidemia

A

defective apoB100 protein

37
Q

what are signs of type IIb hyperlipidemia

A

accumulation of both LDL and VLDL variable elevations in TGL and cholesterol may have tendinous xanthomas or tuberous and xanthelasmas

38
Q

what causes type III hyperlipidemia

A

various mutations of opo-protein E impaires ability to bind IDL R

39
Q

what are signs of type III hyperlipidemia

A

accumulation IDL increase in TGL and cholesterol premature atherosclerosis and xanthomas

40
Q

what are signs of type IV hyperlipidemia

A

plasma cholesterol is normal eruptive xanthomas assoc with coronary heart disease, DM II, obesity and alcholism

41
Q

what causes type IV hyperlipidemia

A

overpdocution VLDL

42
Q

what causes type V hyperlipidemia

A

genetic defects of apo-lipoprotein C-II gene

43
Q

what are signs of type V hyperlipidemia

A

accumulations of chylomicroms and VLDL severe elevations of TGL in plasma present in early childhood similar to type I with acute pancreatitis and eruptive xanthomas

44
Q

what causes decreased synthesis of HDL

A

decreased formation of apo A-I and apo C-III

decreased reversed cholesterol transport

increased LDL levels

45
Q

What does a hepatic lipase deficieny look likw

A

coronary heart disease, xanthomas

accumulation of large TGL rich HDL and VLDL

46
Q

what other diseases can lead to secondary hypercholesterolemia

A

pregnancy

hypothyroidis,

cholestasis

acute intermittent porphyria

47
Q

what other conditions/diseases can lead to secondary hyperTGLemia

A

DM

pancreatitis

gout

type I glycogen storage disease

alcoholism

oral contraceptive use

48
Q

what conditions can lead to hyper choelsterolemia and hyper TGLemia

A

nephrotic syndrome

chronic renal failure

steroid immunosuppressive therapy

49
Q

what is xanthelasma palpebrarum

A

soft velvety flat yellow lesions associated with hyperlipidemia

secondary to cholestasis

50
Q

what are tuberous xanthomas

A

firm painless red yello nodules that develop in pressure areas like the extensor surface of knees and elbows

associated with hypercholesterolemia and increased levels of LDL

secondary to nephrotic syndrome and hypothyroidism

51
Q

what is tendinous xanthomas

A

associated with secere hypercholesterolemia and elevated LDL levels

lesions related to trauma

nodules related to tendons or ligaments

secondary to cholestasis

52
Q

what are eruptive xanthomas

A

crops of small red-yellow papules that may spontaneously resolve over weeks

associated with hyperTGLemia

seconary to DM

53
Q

what are plane xanthomas

A

associated with dysbetalipoproteinemia

cover large areas of face neck thorax

seconary to cholestasis

54
Q

how do you evaluate if patient has hyperlipoproteinemia

A

measure plasma lipid and lipoprotein levels after overnight fast 12-16 hours

abnormal lipoprotein patterns need to be identified

electrophoresis and ultracentrifugation of whole plasma for Dx

55
Q

What are Tx for hyperlipoproteinemia

A

dietary

lipid lowering agents: statins, fibrates, bile acid binding resins, probucol or nicotinic acid

56
Q

when to eruptive, tuberous, and tendinous xanthomas clear up

A

eruptive resolve in weeks of systemic Tx

tubuers after months of Tx

tendinous take years to resolve or may persist indefinitely

57
Q

majority of cholesterol is made or taken in diet? where in the body is it made?

A

majority is made in body

all nucleated cells can synthesize cholesterol in the ER and cytosol

58
Q

What is HDL-C

A

scavenger to lwoer serum cholesterol

59
Q

what is LDL-C

A

transporter for cholesterol from liver to peripheral tissues

60
Q

what is HDL

A

transporter of cholesterol from peripheral tissues to liver for degradation

61
Q

What can prolonged elevated levels of cholesterol in plasma lead to

A

artherosclerosis

DM

62
Q

What are statins

A

act as competitive inhibitors of HMG-CoA reductase so that it cannot be converted to mevalonate so inhibiting cholesterol biosynthesis

63
Q

what is niacin

A

vit B3

inhibits release of FFA from adipose decreaseing VLDL synthesis and inhibting secretion so decreased LDL production and increased HDL by unknown mechanism

64
Q

what are fibrates

A

lower plasma TGL by decreased secretion of TGL and VLDL by liver

65
Q

what are ezetimibes

A

reduce blood cholesterol levels by inhibiting absorption of cholesterol by intestine

names: setia or ezetrol

66
Q

What are resins

A

bile acid sequestrants

promote excretion of bile acids in stool

diverts cholesterol to bil acid synthesis

up regulates LDL R and enhanced LDL clearance from plasma

names: cholestyramine, colestipol and colesevelam

Year 2 CV (31 decks)

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