Biochemistry Flashcards

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0
Q

Rate limiting enzyme for Gluconeogenesis

A

Fructose-1,6- bisphosphatase

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1
Q

Rate limiting enzyme for Glycolysis

A

PFK-1

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2
Q

Rate limiting enzyme for Glycogenesis

A

Glycogen synthase

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3
Q

Rate limiting enzyme for Glycogenolysis

A

Glycogen phosphorylase

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4
Q

Glycogen phosphorylase deficiency

A

McArdle Dz

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5
Q

Glucose-6-Phosphatase deficiency

A

von Gierke dz

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6
Q

Lactic acidosis, hyperlipidemia, hyperuricemia

A

von Gierke dz

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7
Q

a-1,6- glucosidase deficiency

A

Cori dz

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8
Q

a-1,4- glucosidase deficiency

A

Pompe dz

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9
Q

Incr glycogen in liver, severe fasting hypoglycemia

A

von Gierke dz

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10
Q

Hepatomegaly, hypoglycemia, hyperlipidemia (normal kidneys, lactate, Uric acid)

A

Cori dz

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11
Q

Painful muscle cramps, myoglobinuria w strenuous exercise

A

McArdle

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12
Q

Severe hepatosplenomegaly, enlarged kidneys

A

von Gierke

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13
Q

Rate limiting step of Pentose Phosphate pathway

A

G6P dehydrogenase

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14
Q

Galactokinase deficiency

A

Galactokinase deficiency

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15
Q

Aldolase B deficiency

A

Fructose intolerance

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16
Q

Lactase deficiency

A

Lactose intolerance

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17
Q

Galactose-1-P- uridyltransferase deficiency

A

Classic Galactosemia

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18
Q

Fructokinase deficiency

A

Essential Fructosuria

19
Q

What is the rate limiting enzyme for ketone body synthesis

A

HMG-CoA synthase

20
Q

What is the rate limiting enzyme for cholesterol synthesis

A

HMG-CoA reductase

21
Q

Rate limiting enzyme for B-oxidation of fatty acids

A

Carnitine Acyl transferase

22
Q

What are the essential amino acids

A

Phenylalanine, Valine, Threonine, Tryptophan, Isoleucine, Methionine, Histidine, Leucine, Lysine

23
Q

a-ketoacid dehydrogenase B1 deficiency

A

Maple syrup urine disease

24
Q

Rate limiting step in Purine synthesis

A

Glutamate PRPP amidotransferase

25
Q

What is the rate limiting step in pyrimidine synthesis

A

Carbamoyl Phosphatase synthetase II

26
Q

What are the sources of carbons in the formation of purines

A

CO2, THF, Glycine, Glutamine, Aspartate

27
Q

What are the sources of carbons in the formation of pyrimidines

A

CO2, Aspartate, Glutamine

28
Q

What accounts for the negative charge of DNA

A

Phosphate group

29
Q

What accounts for the positive charge of histones

A

Arginine, Lysine

30
Q

HGPRT Deficiency

A

Lesch-Nyhan syndrome

31
Q

Treatment of Lesch-Nyhan syndrome

A

Allopurinol

32
Q

Headache causing condition caused by excess Vit A

A

Psuedotumor cerebri (incr. CSF pressure)

33
Q

Clinical findings of B6 deficiency

A

Same as riboflavin deficiency + convulsions, hyper-irritability and peripheral neuropathy

34
Q

Characteristics of Dry Beri Beri

A
  • Nonspecific peripheral neuropathy with myelin degeneration
  • Toe-drop, wrist-drop, foot-drop
  • Muscle weakness, Hyporeflexia, areflexia
35
Q

Characteristics of Wet Beri Beri

A
  • Peripheral vasodilation –> high output cardiac failure –> peripheral edema
  • Cardiomegaly
36
Q

Rate limiting enzyme of TCA Cycle

A

Isocitrate dehydrogenase

37
Q

Rate limiting enzyme of Urea cycle

A

CPS I

38
Q

What is the rate limiting enzyme in fatty acid synthesis

A

Acetyl-CoA carboxylase

39
Q

Amino acid derivatives of Phenylalanine

A
  • Tyrosine (requires BH4) –> Thyroxine
  • Dopa (requires BH4) –> Melanin
  • Dopamine (requires B6)
  • Norepinephrine (requires Vit. C)
  • Epinephrine (requires SAM)
40
Q

Amino acid derivatives of Tryptophan

A
  • Niacin (requires B6) –> NAD+/NADP+

- Serotonin (requires BH4) –> Melatonin

41
Q

Amino acid derivatives of Histidine

A

Histamine; requires B6

42
Q

Amino acid derivatives of Glycine

A

-Porphyrin (requires B6) –> Heme

43
Q

Amino acid derivatives of Arginine

A

-Creatinine, Urea, NO

44
Q

Amino acid derivatives of Glutamate

A
  • GABA (requires B6)

- Glutathione