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General Principles > Biochemistry 2.0 > Flashcards

Biochemistry 2.0 Flashcards

1
Q

deficient enzyme in Von gierke’s disease

A

glucose-6-phosphate

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2
Q

deficient enzyme in Corri’s disease

A

alpha-1,2, glucosidase

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3
Q

deficient enzyme in pompe’s disease

A

lysosomal alpha-1,4, glucosidase

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4
Q

deficient enzyme in McArdle’s disease

A

glucogen phosphorylase
(myophosphorylase)

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5
Q

features of Von Gierk’s disease

A

hypoglycaemia
hepatomegaly
lactic acidosis

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6
Q

features of Corri’s disease

A

hypotonia
wasting
hepatomegaly
elevated CK

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7
Q

features of pompe’s disease

A

cardiomegaly
(pompe is huge)

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8
Q

features of McArdle’s disease

A

myoglobinuria during exercise
myalgia
(jumping over Mc Hurddles)

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9
Q

deficient enzyme in Gauchers

A

beta-glucocerebrosidase
(gaucho’s food causes energy to getsto your head)

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10
Q

what type of mutation is associated with gauchers

A

splice site mutation

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11
Q

defective enzyme in Tay Sach’s disease

A

hexosaminidase A
(tay bridge is huge)

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12
Q

defective enzyme in nielmann-pick disease

A

sphingomelinase

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13
Q

defective enzyme in Fabry’s disease

A

alpha-galactoside

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14
Q

defective enzyme in krabbe’s disease

A

galactocerebrosidase
(krabs gallop)

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15
Q

features of gauchers disease

A

hepatosplenomegaly
bone pain
aseptic necrosis of femur
thrombocytopenia
anaemia

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16
Q

features of tay sachs disease

A

cherry red spots on macula
normal liver size
developmental delay

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17
Q

features of neilmann pick disease

A

hepatomegaly
cherry red spots on macula
lipid-laden macrophages

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18
Q

features of Krabbe’s disease

A

peripheral neuropathy, optic atrophy, globoid cells

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19
Q

G6PD deficiency mode of inheritance

A

X linked recessive

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20
Q

lab findings on blood smear in G6PD deficiency

A

heinz bodies
bite cells
(bite into some heinz ketchup)

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21
Q

enzyme affected in PKU

A

phenylalanine hydroxylase

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22
Q

2 types of PKU

A

BH4 deficiency - usually die in infancy
phenylalanine enteropathy - increased phenylalnine levels in pregnant women with untreated PKU

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23
Q

when is PKU tested in babies

A

2-3 days after birth
(not at birth due to normal levels with maternal enzyme)

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24
Q

treatment for PKU

A

increased tyrosine and decreased phenylalanine in diet

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25
Q

pathophysiology of maple syrup disease

A

reduced degradation of branched amino acids (I, S, V) due to a decreased branched-chain alpha-ketoacid dehydrogenase
= increased keto-acids in blood

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26
Q

deficient enzyme in maple syrup disease

A

alpha keto-acid dehydrogenase

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27
Q

a rise in what amino acids occur in maple syrup disease

A

branched amino acids;
Isoleucine
Leucine
valine

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28
Q

condition which causes urine to turn black in prolonged exosure to air

A

alkaptonuria

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29
Q

alkaptonuria mode of inheritance

A

autosomal recessive

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30
Q

pathway affected in alkaptonuria

A

metabolism of phenylalanine and tyrosine (tyrosine to fumarate)
results in a build up to toxic homogentisic acid

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31
Q

difference in marfan habitus in homocystinuria compared to marfans

A

marfans - lens subluxes up and out
homocystinuria - lens subluxes down and in

(marFAN - fans out)

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32
Q

cystinuria diagnostic test

A

urinary Na cyanide nitroprusside test

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33
Q

cystinuria is caused by defective reabsorption of what amino acids

A

COLA causes stones
Cystine
Ornithine
Lysine
Arginine

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34
Q

mode of inheritance of familial hypercholesterolaemia

A

autosomal dominant

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35
Q

pathogenesis of familial hypercholesterolaemia

A

defective/absent LDL receptors or defective apo B100

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36
Q

mode of inheritance of hyperchylomicronaemia

A

autosomal recessive

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37
Q

pathogenesis of hyperchylomicronaemia

A

lipoprotein lipase or apo CII deficiency

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38
Q

mode of inheritance of dysbeta-lipoproteinaemia

A

autosomal recessive

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39
Q

pathogenesis of familial dysbeta-lipoproteinaemia

A

APO E deficiency

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40
Q

mode of inheritance of hypertriglyceridaemia

A

autosomal dominant

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41
Q

pathogenesis of hypertriglyceridaemia

A

hepatic overproduction of VLDL

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42
Q

familial dyslipidaemias - I, II, III, IV

A

Can Cholesterol DysBeliefs Tri again)

I - hyperchylomicronaemia (AR)
II - hypercholesterolaemia (AD)
III - dysbeta-lipoproteinaemia (AR)
IV - hypertriglyceridaemia (AD)

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43
Q

D lactic acid is increased in what conditions

A

short gut syndrome
propylene glycol toxicity

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44
Q

increased levels of what result in oxidative stress in G6P deficiency

A

oxidized glutathione (due to low levels of NADPH)

45
Q

what condition causes pearly papules on the skin, aggressive behaviour, frontal bossing, enlarged tongue

A

hunter syndrome

46
Q

what condition causes hepatosplenomegaly, clouded cornea, hirutism, developmental delay and skelatal anomalies

A

hurler syndrome

46
Q

deficient enzyme in hurler syndrome

A

alpha-L-iduronisase

47
Q

deficient enzyme in hunter syndrome

A

iduronidate-2-sulfatase

48
Q

alkaptonuria is due to what defective enzyme

A

homogentisic dioxygenase

49
Q

treatment for alkaptonuria

A

high vitamin C
reduce phenylalanine and tyrosine

50
Q

vitamin B6 features

A

(pyridoxine)
sideroblastic anaemia, peripheral neuropathy, seizures

51
Q

vitamin B7 features

A

(biotin)
alopecia, dermatitis

52
Q

caherins role and what ion they require to function

A

cell-cell adhesion
Calcium (‘calcium-dependant adhesion’)

i.e. desmoglein is caused by Ab against desmoglein 3 which is a type of cadherin

53
Q

drugs that affect folate metabolsim

A

TMP
Trimethoprim
methotrexate
pyrimethamine
phenytoin (affects absorption)

54
Q

hereditary fructose intolerance is caused by what defective enzyme

A

aldolase B

55
Q

neonatal diabetes is caused by what defective enzyme

A

glucokinase

56
Q

rate limiting step in urea cycle

A

carbomyl phosphate synthetase I

57
Q

vit B12 deficiency causes elevated levels of what

A

methylmalonyle mutase
(this is normal in folate deficiency)

58
Q

ezyme that catalyses conversion of phospholipids to arachidonic acid

A

phospholipase A2

59
Q

enzyme that catalyses conversion arachidonic acid to leukotrienes

A

lipoxagenase

60
Q

enzyme that converts glutamate to GABA

A

glutamate decarboxylase

61
Q

function of proteosomes

A

breakdown of proteins

62
Q

function of peroxisomes

A

catabolism of long chain fatty acids

63
Q

function of lysosomes

A

catabolism of polysaccharides and proteins

64
Q

whats the main mechainsm by which vit D supplements increase Ca levels

A

increases Ca reabsorption in the gut

65
Q

mode of inheritence of hunter syndrome

A

x-linked recessive

66
Q

mode of inheritance of hurler syndrome

A

autosomal recessive

67
Q

what is low in PKU

A

dopamine
melatonin
(due to decreased tyrosine which is the precursor to dopamine and melanin)

68
Q

what enzymes are inhibited by lead toxicity

A

ferrochelatase
alpha-aminolevulinic acid dehydrogenase

69
Q

features of lead toxicity

A

neurological
gatsroentrointestinal
microcytic anaemia

70
Q

features of galactosaemia

A

infantile cataracts
vomiting
jaundice
intellectual disability

71
Q

enzyme affected in galactosaemia

A

galactose-1-phosphate uridyltransferase

72
Q

in allergic reactions, what enzyme within the cytoplasm will increase

A

phsopholipase C (increase permability and cause vasodilatation)

73
Q

what is the mechanism by which vitamin C deficiency causes bleeding and poor wound healing

A

defective hydroxylation of collagen residues

74
Q

a defect in what mechanism occurs in folate deficiency

A

transfer of methyl groups

75
Q

mechanism in cyanide poisoning

A

inhibition of electron transport

76
Q

features of cyanide poisoning

A

often seen in house fires
nausea/vomiting
respiratory
bright red venules on ophthalmoscopy
almond odour like breath

77
Q

features of cyanide poisoning vs C0

A

similar but cyanide causes distinct almon odour to breath
usually when removed from the causative agent, symptoms resolve in C0 poisoning

78
Q

defective enzyme in malignant PKU

A

DHPR

79
Q

the rate of what enzymatic reaction is increased in patients taking steroids resulting in hyperglycaemia

A

oxaloacetate to phosphenolpyruvate by the enzyme PEP carboxykinase
(irreversible step in gluconeogenesis)

80
Q

what amino acid is a precursor to thyroid hormone

A

phenylalanine (which is a precursor to tyrosine)
thyroid hormone is made of tyrosine

81
Q

describe the effects of defect dopamine-beta-hydroxylase

A

causes high dopamine and low epinephrine = hypotension
DBH catalyses (with the use of co-enzyme vitamine C) dopamine to epinephrine so when defective = low epinephrine

82
Q

dopamine-beta-hydroxylase requires what co-factor to convert dopamine to epinephrine

A

vitamin C

83
Q

catecholamine synthesis / tyrosine catabolism

A

Pure True Love Does Not Exist
phenylalanine
tyrosine
L-dopa
dopamine
norepinephrine
epinephrine

84
Q

what pathway does salbutamol activate

A

B2 agonists stimulate Gs pathway

85
Q

where in the cell is insulin synthesised

A

rough endoplamsic reticulum

86
Q

what does acetyl CoA catalyse the rate limiting step of

A

fatty acid synthesis
acetyl-CoA to Malonyl coenzyme A

87
Q

what compound is used in steroid synthesis

A

NADPH

88
Q

features of porphyria cutanea tarda

A

sun exposed skin blisters
tea coloured urine
midly elevated transaminases

89
Q

enzyme affected in prophyria cutanea tarda

A

UROD enzyme

90
Q

what mechanism will be inhibited in vitamin K deficiency

A

carboxylation of glutamic acid
(carboKylation - vitamin K)

91
Q

vitamin K deficiency features

A

bleeding
prolonged PT and PPT
can occur after prolonged abx i.e. cephalosporins

92
Q

features of galactosaemia

A

e.coli infections
vomiting
diarrhoea
jaundice
hepatomegaly
cataract

93
Q
A
94
Q

Deficient enzyme in classic galactosaemia

A

GALT
Galactose-phosphate uridyltransferase

95
Q

Classic galactosaemia causes elevated levels of what

A

Galactitol (due to upregulation of galactose which is reduced to galactitol by aldose reductase)
Galactose-1-phosphate (GALT is required to convert galactose-1-phosphate to glucose-1-phosphate)

96
Q

What does a positive urine reducing substrate assay indicate

A

Inborn error of carbohydrate metabolism

97
Q

What is the main enzyme in gluconeogenesis and its role

A

Fructose-1,6-biphosphatase
fructose-1,6- biphosphate is converted to fructose-6-phosphate which can then be converted to glucose-6-phosphate

98
Q

Lead poisoning will cause a rise in what substance in the blood

A

Erythrocyte protoporphyrin

99
Q

Treatment for organophosphate poisoning and its mechanism

A

Atropine (muscarinic antagonist)
Pralidoxime (promotes acetylcholinesterase)

100
Q

Pathophysiology of organophosphate poisoning

A

Irreversibly inhibits acetylcholinesterase

101
Q

Pathophysiology of cyanide poisoning

A

Affects electron transport chain by inhibiting cytochrome C oxidase

102
Q

drugs that affect folate absorption and how

A

affect metabolism by inhibiting dihydrofolate reductase - trimethroprim, methotrexate, pyrimethamine

affect intestinal absorption of folate - phenytoin

103
Q

features of inclusion cell disease

A

coarse facial features
restricted movement
recurrent infections
clouding cornea
hepatosplenomegaly

104
Q

pathophysiology of inclusion cell disease

A

defect in N-acetylglucosamine-1-phosphate transferase resulting in failure of the golgi apparatus to transfer phosphate to mannose residues on specific proteins

105
Q

defective enzyme in inclusion cell disease (I-cell)

A

N-acetylglucosmine-1-phosphate transferase

106
Q

where in the cell is the defect in I-cell disease

A

golgi apparatus
(defect enzyme N-acetylglucosamine phosphate transferase = unable to transfer phosphate to mannose residues on specific proteins in golgi apparatus)

107
Q

structure of collagen

A

triple helix

General Principles (3 decks)

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