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STEP 1 RECALL > Biochem yay... > Flashcards

Biochem yay... Flashcards

1
Q

a Pyruvate DH deficiency will lead to build up of __________

A

Lactic acid

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2
Q

name the 2 exclusively ketogenic amino acids

((* ie: won’t feed into glycolysis at all… can give to pts with Pyruvate DH deficiency and they won’t contribute to more lactic acid))

A

Leucine & Lysine

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3
Q

If delta G is negative:

A

the reaction favors the products and Keq > 1

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4
Q

If delta G is positive:

A

the reaction favors the substrates and Keq < 1

Note:
Keq can never be zero & a Keq = 1 would mean delta G is 0

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5
Q

diseases of mitochondrial DNA are passed from ______ to ________

A

mother to all of her offspring

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6
Q

deletion or insertion of 1 nucleotide is a __________ mutation

A

Frameshift (any deletion or insertion NOT in multiples of 3)

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7
Q

a single base substitution that causes the codon & the amino acid to change

A

Missense mutation

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8
Q

pt with large amounts of orotic acid in the urine— you should supplement them with _______

A

Uridine –improves symptoms by inhibiting CPS II enzyme

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9
Q

Nitric oxide synthase (eNOS) synthesizes NO from which amino acid??

A

L- Arginine

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10
Q

mechanism of Streptomycin

A

binds 30s ribosomal subunit & impairs INITIATION of translation

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11
Q

Which bacterial enzyme has 5’ –> 3’ exonuclease activity?

(as well as 3’–> 5’ exonuclease activity and 5’—> 3’ polymerase )

A

DNA pol 1

  • proofreading
  • removes RNA primers in 5–> 3 direction and fills in holes left by the primers too
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12
Q

bacterial mRNA can be polycistronic…meaning _____________

A

one mRNA codes for several proteins

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13
Q

liver glycogen stores usually become depleted after _________ hours of fasting

A

12-18 hours

-after that gluconeogenesis is the main way to maintain blood glucose

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14
Q

________ is a glucose sensor in beta cells, inactivating mutations of this enzyme result in mild hyperglycemia that can be made worse in pregnancy

A

Glucokinase

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15
Q

infant with hypertonicity and diapers that smell like burnt caramel

A

Maple syrup urine disease

  • defect in a-keto acid DH
  • inable to break down branched chain amino acids (Valine, Isoleucine and Leucine)
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16
Q

What 4 enzymes need Thiamine (B1) to function?

A

1) Pyruvate DH
2) a-ketoglutarate DH
3) Transketolase
4) branched chain alpha-ketoacid DH

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17
Q

Which TCA cycle enzyme uses FAD (from Riboflavin (B2)) ??

A

Succinate DH (converts Succinate to Fumarate)

-uses FAD –> makes FADH2

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18
Q

Which autoantibody has the highest specificity for RA?

A

Anti-CCP (cyclic citrullinated peptide)

-ANA & RF are not very specific

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19
Q

Which B vitamin is needed for transamination reactions?

A

B6 (Pyridoxine)

20
Q

Aldose reductase converts glucose —> sorbitol and _______ _______ converts sorbitol into fructose (if present in the cell)

A

Sorbitol DH

-tissues like the lens, renal papillae, retina & schwann cells have little Sorbitol DH (and therefore sorbitol accumulates in diabetics and causes osmotic damage to these tissues)

21
Q

Which amino acid becomes essential in a baby with PKU?

A

Tyrosine

22
Q

deficiencies of vitamins ___, ____, & ___ are associated with high levels of homocysteine

(which is associated with thrombosis/ atherosclerosis)

A

B6, B12, & Folate

23
Q

Where in the cell do 5’ capping, poly-A tail addition, & intron splicing happen?

A

Nucleus

24
Q

chronic vitamin A toxicity (overuse) symptoms

A

alopecia, dry skin, hyperlipidemia, hepatosplenomegaly, liver damage, vision changes / papilledema

25
Q

this mineral activates many enzymes

A

Calcium

26
Q

______ are made by RNA pol II in the nucleus, help remove introns from the RNA & thus are necessary for making mRNA

A

snRNPs

27
Q

the Nitrogen atoms in Urea are derived from ___ & ____

A

NH3 & Aspartate

note: CPS I is the RLS in the urea cycle

28
Q

Lead blocks ___________ in the heme biosynthetic pathway

A 
ALA dehydratase 
(delta -Aminolevulinate DH)

-thus in Lead poisoning, delta-ALA & protoporphyrin IX accumulate

29
Q

bone crises, aseptic necrosis of the femur, hepatosplenomegaly, macrophages that look like “crumpled tissue paper”

A

Gaucher’s disease

  • most common lysosomal storage dz
  • Glucocerebroside accumulates
30
Q

hepatosplenomegaly, cherry red macula, foam cells

A

Niemann- Pick disease
- Sphingomyelin accumulates

“No Man Picks his nose w/ his Sphinger”

31
Q

deficient enzyme in Tay Sachs disease

A

-lacking Hexosaminidase A

GM2 Ganglioside accumulates

32
Q

deficient Beta-galactocerebrosidase

A

Krabbe’s disease

  • peripheral neuropathy
  • optic atrophy
33
Q

deficient alpha-L-iduronidase–> developmental delay, corneal clouding, hepatosplenomegaly

A

Hurler’s syndrome

-heparin & dermatin sulfate accumulate

34
Q

deficient Iduronate sulfatase –> aggressive behavior, NO corneal clouding, X-linked recessive

A

Hunter’s syndrome

  • milder than Hurler’s
  • “Hunters see clearly (no cataracts) and aim for the “X” (X- linked recessive)
35
Q

this enzyme esterifies cholesterol

A

LCAT

36
Q

delivers dietary triglycerides to tissues

A

Chylomicrons (intestines –> lymph –> blood –> tissues)

37
Q

delivers hepatic triglycerides to tissues, secreted by the liver

A

VLDL

38
Q

also delivers hepatic trigs to tissues, but this is converted from VLDL by LPL

A

LDL

  • has apo B-100
  • (VLDL — lipoprotein lipase —> LDL)
39
Q

cofactor for Carboxylation reactions

ie: Pyruvate carboxylase…

A

BIOTIN

40
Q

deficiency causes night blindness and dry skin

A

Vitamin A

41
Q

microdeletion on long arm of chromosome 7, “elfin faces”, very friendly with all people , well developed vocabulary

A

Williams syndrome

42
Q

microdeletion on short arm chromosome 5, associated with VSD, severe MR

A

Cri du Chat syndrome

43
Q

not able to add mannose-6-phosphate to proteins, lysosomal enzymes accumulate outside the cells…clouded corneas, coarse facies, restricted joint movement…

A

I-cell disease

lysosomal storage dz

44
Q

more serious disorder of fructose metabolism, F-1-P accumulates/ trapped in cells, causes hypoglycemia

A

Aldolase B deficiency (“Fructose Intolerance”)

45
Q

amino acid needed for porphyrin & heme synthesis

A

Glycine (also need B6)

46
Q

5 cofactors required for Pyruvate DH, Alpha-ketoglutarate DH & Branched chain-alphaketo acid DH

A

“TLC For Nancy”

  • Thiamine
  • Lipoate
  • Coenzyme A
  • FAD
  • NAD+

STEP 1 RECALL (12 decks)

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