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Flashcards in Biochem Deck (92):
1

Only secondary AA

proline

2

Glucogenic essential AA

Met
Val
His

3

Ketogenic essential AA

Leu
Lys

4

Glucogenic/Ketogenic essential AA

Isoleucine
Phenylalanine
Threonine
Tyrptophan

5

Charge of acidic AA at body pH

negative

6

Acidic AA

Asp
Glu

7

Charge of basic AA at body pH

Positive
His has NO charge

8

Basic AA

Arg
Lys
His
(arg and lys are high in histones to bind negatively charged DNA)

9

Which AAs have 3 titratable protons?

Acidic AA (Asp, Glu)
Basic AA (Arg, Lys, His)
Cysteine
Tyrosine

10

Only urea cycle disorder that is X-linked recessive

ornithine transcarbamylase deficiency

11

AA used NO, Creatinine, Urea

Arginine

12

AA used to make GABA and Glutathione

Glutamate

13

AA used to make Heme

GLycine

14

AA used to make Histamine

Histidine

15

AA used to make Serotonin, Melatonin, Niacin, and NAD+/NADP+

Tryptophan

16

AA used to make Thyroxine, Melanin, Dopamine, NE, and Epi

Phenylalanine

17

What is required in the step from phenylalanine to tyrosine?

BH4 (regenerated from BH2 by dihydropiopterin reductase)

18

What is required in the step from Tyrosine to Dopa?

BH4

19

What is required in the step from dopa to Dopamine?

Vitamin B6

20

What is required in the step from Dopamine to NE?

Vitamin C (Dopamine hydoxylase)

21

What is required in the step form NE to Epi?

SAM

22

What vitamin is needed to synthesize niacin form tryptophan?

B6

23

What is needed to make 5-HT from Tryptophan?

BH4 and B6

24

What other amino acids need B6 to make their products?

-Phenalanine (Dopa to DA)
-Tryptophan (to niacin and to 5-HT)
-Histidine (to histamine)
-Glutamate (to GABA)
-Glycine (to porphyrin)

25

What is needed to make NO from arginine?

BH4

26

What enzyme is deficient in PKU?

Phenylalanine hydroxylate
(or tetrahydrobiopterin cofactor)

27

What builds up in PKU?

phenylalanine

28

How do you treat PKU?

low phenylalanine, high tyrosine diet

29

What enzyme is deficient in Alkaptonuria?

Homogentisate oxidase

30

What builds up in alkaptonuria?

Homogentisic Acid (toxic to joints)

31

What are the 3 causes of homocystinuria?

-Cysthathionine synthase deficiency
-Decreased affinity of cystathionine synthase for pyridoxal phosphate
-Homocysteine methyltransferase deficiency

32

How do you treat cystathionine synthase deficiency?

Methionine will be high and cysteine will be low, so decrease methionine and increase cysteine and B12/folate in the diet

33

How do you treat a decreased affinity of cystathionine synthase for pyridoxal phosphate

Give extra B6 and increase cysteine in the diet

34

How do you treat a homocysteine methyltransferase deficiency?

Methionine will be low, so increase it in the diet

35

What causes cystinuria?

defect in AA transporter in renal PCT for Cysteine, Ornithine, Lysine and Arginine (COLA)

36

What causes MSUD?

decreased alpha-ketoacid dehydrogenase (B1= thiamine is cofactor)

37

What builds up in MSUD?

branched amino acids (isoleucine, leucine and valine)

38

What is "tender love and care for Nancy"?

-Thiamine pyrophosphate
-Lipoate
-CoA
-FAD
-NAD

39

What enzymes need tender love and care for Nancy?

-Alpha-ketoacid dehydrogenase
-Alpha-ketoglutarate dehydrogenase
-Pyruvate dehydrogenase

40

CT stain

Vimentin

41

Muscle stain

Desmin

42

Epithelial cell stain

Cytokeratin

43

Neuroglia stain

GFAP

44

Neuron stain

neurofilaments

45

Rate limiting step of glycolysis (and regulators)

PFK-1
(increased by AMP and fructose-2,6-bisphosphate; decreased by ATP and citrate)

46

Rate limiting step of gluconeogenesis (and regulators)

Fructose-1,6-Bisphosphate
(increased by ATP and acetyl-CoA; decreased by AMP and fructose-2,6-bisphosphate)

47

Rate limiting step of TCA cycle (and regulators)

Isocitrate dehydrogenase
(increased by ADP; decreased by ATP and NADH)

48

Rate limiting step of glycogenesis (and regulators)

Glycogen synthase
(increased by G-6-P, insulin and cortisol; decreased by epi and glucagon)

49

Rate limiting step of glycogenolysis (and regulators)

Glycogen phosphorylase
(increased by epi and glucagon; decreased by G-6-P, insulin and ATP)

50

Rate limiting step of HMP shunt (and regulators)

G6PD
(increased by NADP+; decreased by NADPH)

51

Rate limiting step of De novo pyrimidine synthesis

Carbamoyl phosphate synthetase II (needs 2 ATP)

52

Rate limiting step of De novo purine synthesis (and regulators)

Glutamine-PRPP amidotransferase
(decreased by AMP, IMP and GMP)

53

Rate limiting step of urea cycle (and regulators)

Carbamoyl phosphate synthetase I
(increased by N-acetylglutamate)

54

Rate limiting step of fatty acid synthesis (and regulators)

Acetyl-CoA-Carboxylase
(increased by insulin and citrate; decreased by glucagon and palmitoyl-CoA)

55

Rate limiting step of fatty acid oxidation (and regulators)

Carnitine acyltransferase I
(decreased by malonyl-CoA)

56

Rate limiting step of cholesterol synthesis (and regulators)

HMG-COA reductase
(increased by insulin and thyroxine; decreased by cholesterol and glucagon)

57

Rate limiting step of ketogenesis

HMG-CoA synthase

58

What is deficient in Von Gierke disease?

Glucose 6 Phosphate (can't convert G-6-P back to glucose during glycogenolysis)

59

What is deficient in Pompe disease?

Lysosomal alpha-1,4-glucosidase (acid maltase)

60

What is deficient in Cori Disease?

Debranching enzyme alpha-1,6-glucosidase (can't remove last residue)

61

What is deficient in McArdle disease?

Skeletal muscle glycogen phosphorylase (myophosphorylase) so can't get branching glycogen down to 4 untis

62

Which glycogen storage disease leads to cardiomyopathy?

Pompe disease

63

Which glycogen storage disease leads to painful muscle cramps and myogloginuria with strenuous exercise?

McArdle disease

64

Which glycogen storage disease leads to severe fasting hypoglycemia and increased glood lactate with hepatomegaly (increased glycogen in liver)?

Von Gierke disease

65

Which glycogen storage is a mimic of Von Gierke (but normal blood lactate levels)?

Cori disease

66

Which lysosomal storage disease is not AR?

Fabry disease (XLR)

67

What is deficient in Fabry?

Alpha-galactosidase A

68

What builds up in Fabry?

Ceramide trihexoside

69

What is deficient in Gaucher?

Glucocerebroside (Beta-glucosidase)

70

What builds up in Gaucher?

Glucocerebroside

71

What is deficient in Neimann-Pick?

Sphingomyelinase

72

What builds up in Neimann-Pick?

Sphingomyelinase

73

What is deficient in Tay Sachs?

Hexosaminidase A

74

What builds up in Tay Sachs?

GM2 ganglioside

75

What is deficient in Krabbe disease?

Galactocerebrosidase

76

What builds up in Krabbe disease?

Galactocerebroside, psychosine

77

What is deficient in metachromatic leukodystrophy?

Arylsulfatase A

78

What builds up in metachromatic leukodystrophy?

Cerebroside sulfate

79

What is deficient in Hurler?

alpha-L-iduronidase

80

What builds up in Hurler?

Heparin Sulfate; dermatan sulfate

81

What is deficient in Hunter?

Iduronate sulfatase

82

What builds up in Hunter?

Heparin Sulfate; dermatan sulfate

83

LSD causing peripheral neuropathy, developmental delay, optic atrophy and globoid cells

Krabbe disease

84

LSD causing progressive neurodegeneration, hepatosplenomegaly, "cherry-red" spot on macula, foam cells

Neimann-Pick

85

LSD causing Hepatosplenomegaly, pancytopenia, bone crises, aseptic necrosis of femur, crumpled tissue paper macrophages

Gaucher disease

86

LSD causing progressive neurodegeneration, developmental delay, "cherry red" spot on macula, lysosomes with onion skin

Tay Sachs (NO HEPATOSPLENOMEGALY)

87

LSD causing peripheral neuropathy of hands/feet, angiokeratomas, CV/renal disease

Fabry disease

88

LSD causing aggressive behavior and no corneal clouding with some developmental delay, gargolylism, airway obstruciton and hepatosplenomegaly

Hunter syndrome

89

LSD causing central and peripheral demyelination with ataxia and dementia

Metachromatic leukodsytrophy

90

LSD causing developmental delay, gargoylism, airway obstruciton, corneal clouding and hepatosplenomegaly

Hurler syndrome

91

What leads to inability to transport LCFAs into mitochrondria?

Carnitine deficiency

92

What are the symptoms of carnitine deficiency?

Weakness
Hypotonia
Hypoketoid hypoglycemia
myoglobinemia
Increase muscle TGs