Biochem

Question 1

Lab findings/screen of down syndrome before birth

Answer 1

quad screen: decreased AFP & estriol; increased Beta-hCG & inhibin A
increased nuchal in 1st trimester translucency on ultrasound

Question 2

Lab findings/ screen of trisomy 18 (Edwards) before birth

Answer 2

quad screen: decreased AFP, Beta-hCG, estriol; normal inhibin A

Question 3

Lab findings/ screen of trisomy 13 (Patau’s) before birth

Answer 3

decreased free Beta-hCG, PAPP-A

increased nuchal translucency

Question 4

increased RBC fragility

Answer 4

vit E deficiency

Question 5

Dermatitis, cheoliosis, glossitis

Answer 5

B2 deficiency

Question 6

Peripheral neuropathy, glossitis

Answer 6

B12 deficiency

Question 7

hemorrhagic dz

Answer 7

Vitamin K deficiency

Question 8

dermatitis, diarrhea, dementia

Answer 8

Vit B3 deficiency

Question 9

Megaloblastic anemia

Answer 9

Vit B12 or Folate deficiency

Question 10

pernicious anemia

Answer 10

Vit B12 deficiency

Question 11

Bitot spots, keratomalalcia, xerophthalmia

Answer 11

Vit A deficiency

Question 12

Osteomalacia & Rickets

Answer 12

vit D deficiency

Question 13

Acne & psoriasis association

Answer 13

vit A

Question 14

oxidation / reduction rxn association

Answer 14

vit B2 & B3

Question 15

carboxylation rxn association

Answer 15

Biotin (vit B7)

Question 16

hydroxylation of propyl residue association

Answer 16

vit C

Question 17

Requires IF for absorption

Answer 17

vit B12

Question 18

deficiency in kidney disease

Answer 18

vit D

Question 19

vitamins used in pyruvate DH & alpha-KG DH

Answer 19

vit B1, B2, B3, B5, lipoic acid

Question 20

vitamin given prophylactically to newborn

Answer 20

vit K

Question 21

vitamin used to elevate HDL & lower LDL

Answer 21

niacin (vit B3)

Question 22

deficiency caused by INH use

Answer 22

vit B6

Question 23

Cobalt w/in vitamin structure

Answer 23

vit B12

Question 24

vitamin critical for DNA synthesis

Answer 24

folate & B12

Question 25

Metabolism in the mitochondria

Answer 25

FA oxidation (Beta-oxidation); acetyl-CoA production; TCA cycle; oxidative phosphorylation

Question 26

Metabolism in the cytoplasm

Answer 26

Glycolysis; FA synthesis; HMP shunt; protein synthesis (RER); Steroid synthesis (SER); cholesterol synthesis

Question 27

Metabolism in both mitochondria & cytoplasm

Answer 27

Heme synthesis; Urea cycle; Gluconeogenesis

Question 28

Define kinase

Answer 28

uses ATP to add high energy phosphate group onto substrate (phosphofructokinase)

Question 29

Define phosphorylase

Answer 29

adds inorganic phosphate onto substrate w/o using ATP (glycogen phosphorylase)

Question 30

Define phosphatase

Answer 30

Removes phosphate group from substrate (fructose-1,6-bisphosphatase)

Question 31

Define Dehydrogenase

Answer 31

catalyzes oxidation - reduction rxn (pyruvate DH)

Question 32

Define carboxylase

Answer 32

Transfers CO2 groups w/ help of biotin (pyruvate carboxylase)