Biochem

Question 1

thiamine, TPP

Answer 1

B1

Question 2

ascorbic acid

Answer 2

vitamin C

Question 3

riboflavin: FAD, FMN

Answer 3

B2

Question 4

cobalamin

Answer 4

B12

Question 5

niacin: NAD+

Answer 5

B3

Question 6

folate

Answer 6

B9

Question 7

pantothenic acid: CoA

Answer 7

B5

Question 8

biotin

Answer 8

B7

Question 9

pyridoxine: PLP

Answer 9

B6

Question 10

niacin (B3) derived from which AA

in addition, what two other vitamins are needed to make niacin (B3)

Answer 10

tryptophan

B2 and B6

Question 11

_____ acid (can be from the urea cycle if there is a problem) is precursor of pyrimidine

Answer 11

orotic

Question 12

AA derivatives:
tryptophan –?–> _______ —-> _________
tryptophan –??–> ______ —> __________

Answer 12

B6, niacin, NAD/NADP

BH4, B6; serotonin; melatonin

Question 13

AA derivatives: histidine –?—> ________

Answer 13

B6, histamine

Question 14

AA derivatives: glycine –?–> ____ –> ________

Answer 14

B6, porphyrin, heme

Question 15

ALA synthase problems associated with _______

Answer 15

sideroblastic anemia (X linked)

Question 16

ALA dehydrates problems associated with _______

Answer 16

lead poisoning

Question 17

porphobilinogen deaminase/HMB synthase/uroporphyrinogen I synthase issues associated with ________

Answer 17

acute intermittent porphyria

Question 18

uroporphyrinogen decarboxylase issues associated with ______

Answer 18

porphyria cutanea tarda

Question 19

ferrochetalase problems caused by ______

Answer 19

lead poisoning

Question 20

glycogen storage disease type I
name:
enzyme:
main sxs:
treatment

Answer 20

• von gierke disease
• glucose 6 phosphatase
• severe fasting hypoglycemia, hypertriglycerides, hyperuricemia, hepatomegaly, increase glycogen in liver, hepatomegaly, growth retardation
• frequent oral glucose/cornstarch, avoid fructose and galactose

Question 21

glycogen storage disease type II
name:
enzyme:
main sxs:
treatment:

Answer 21

-pompe disease
-acid maltase/lysosomal alpha-1,4-glucosidase
-cardiomyopathy, exercise intolerance, early death
(Pompe trashes the heart)
-none

Question 22

glycogen storage disease type III
name:
enzyme:
main sxs:
tx:

Answer 22

• Cori disease
• debranching enzme (alpha-1,6-glucosidase)
• milder form of type I with normal lactate levels
• none… gluconeogenesis is intact

Question 23

glycogen storage disease V
name
enzyme
main sxs
tx

Answer 23

• McArdle’s disease
• skeletal muscle glycogen phosphorylase (myophosphorylase)
• painful muscle cramps, myoglobinuria with strenuous exercise, arrhythmia
• blood glucose levels usually normal; McArdle = muscle
• tx with vitamin B6 (cofactor)

Question 24

all glycogen storage diseases have this inheritance

Answer 24

auto rec

Question 25

mode of inheritance: familial adenomatous polyposis

Answer 25

AD

Question 26

mode of inheritance: familial hypercholesterolemia

Answer 26

AD

Question 27

mode of inheritance: hereditary hemorrhagic telangiectasia

Answer 27

AD

Question 28

mode of inheritance: hereditary spherocytosis

Answer 28

AD

Question 29

mode of inheritance: huntington disease

Answer 29

AD

Question 30

mode of inheritance: Li-Fraumeni syndrome

Answer 30

AD

Question 31

mode of inheritance: marfan

Answer 31

AD

Question 32

mode of inheritance: MEN

Answer 32

AD

Question 33

mode of inheritance: NF1 aka ?

Answer 33

von recklinghausen disease | AD

Question 34

mode of inheritance: NF 2

Answer 34

AD

Question 35

mode of inheritance: tuberous sclerosis

Answer 35

AD

Question 36

mode of inheritance: von hippel lindau

Answer 36

AD

Question 37

85% of ADPKD due to mutation in _______on chromosome ______ | the remainder is due to mutation of ______ on chromosome ________

Answer 37

PKD1 on chromosome 16 | PKD2 on chromosome 4

Question 38

FAP progresses to cancer unless __________ | mutation in _____ gene on chromosome ________

Answer 38

colon is resected | APC gene on chromosome 5q (5 letters in polyp)

Question 39

severe atherosclerosis, corneal arcus, tendon xanthomas (achilles), elevated LDL due to issues with LDL receptors what is the disease?

Answer 39

familial hypercholesterolemia

Question 40

telengiectasias, epistaxis, skin discoloration, AVMs, GI bleeding, hematuria aka. Osler-Weber-Rendu syndrome

Answer 40

HHT (hereditary hemorrhagic telengiectasia)

Question 41

defect in spectrin or ankyrin of RBC | what is it and how to tx

Answer 41

hereditary spherocytosis | tx with splenectomy

Question 42

increased DA, decreased GABA and ACh in brain dementia, choreiform movements what is it and what chromosome

Answer 42

Huntingdon's chromosome 4 CAG repeat

Question 43

P53 mutation, SBLA cancers

Answer 43

Li Fraumeni | sarcoma, breast, leukemia, adrenal gland cancers

Question 44

marfan gene mutation and location

Answer 44

FBN1 gene on chromosome 15 --> defective fibrillin | -upward subluxation of lenses, aortic and mitral valve issues

Question 45

MEN - locations of tumors - genes

Answer 45

pancreas, parathyroid, pituitary, thyroid, adrenal medulla MEN1 for MEN1 RET for MEN 2A and 2B

Question 46

cafe au lair spots, optic gliomas, Lisch nodules, pheos | what is it, what gene, what chromosome

Answer 46

NF1 (von recklinghausen disease) | NF1 gene on chromosome 17

Question 47

bilateral acoustic neuroma | what is it, what gene, what chromosome

Answer 47

NF2 | NF2 gene on chromosome 22

Question 48

benign hamartomas | what AD disease is this?

Answer 48

tuberous sclerosis

Question 49

numerous tumors- von hippel lindau | what gene and what chromosome

Answer 49

VHL gene (tumor suppressor) on chromosome 3p

Question 50

which gene and chromosome for cystic fibrosis | most common mutation

Answer 50

CFTR on chromosome 7 | Phe508 deletion

Question 51

``` trinucleotide rpts: fragile X Friedrich ataxia huntingdon myotonic dystrophy ```

Answer 51

CGG GAA CAG CTG

Question 52

AD dystrophy with CTG repeat | what is it and what gene is it

Answer 52

myotonic type 1 dystrophy | DMPK gene

Question 53

FMR1 gene

Answer 53

fragile X- CGG