Jorb's Biochem Buzzwords

Question 1

Nucleoside vs Nucleotide

Answer 1

Side = Sugar
Tide = phosphaTe

Question 2

Orange crystals in diaper

Answer 2

Hyperuricemia. Probably gout –> Lesch Nyhan.

Question 3

Decreased T and B cells in Infant

Answer 3

SCID or Adenoside Deaminase Deficiency.

Too much dATP - feedback inhibition or ribonucleotide reductase - prevents DNA synth

Question 4

I’m for sure going to get colon cancer because I can’t fix my DNA. Dang.

Answer 4

Defective mismatch repair

think Dr. Cormier (colon cancer) MISMATCHes his clothes

Question 5

Real bad sunburn after a little bit of sun in an infant. Also painful eyes.

Answer 5

Xeroderma Pigmentosa - defective nucleotide excision repair.

Question 6

“coarse facial features”

cloudy cornea

Answer 6

I-cell disease

Golgi can’t phosphorylate mannose.

Question 7

Dextrocardia, situs inversus, sinusitis

Answer 7

Kartagener Syndrome (ciliary dyskineaseia)
dynein defect

Question 8

Collagen type I

Answer 8

Bone, skin tendons, teeth, cornea, wound repair

Osteogenesis Imperfecta

Question 9

Collagen type II

Answer 9

CarTWOlage

Question 10

Collagen type III

Answer 10

Blood vessels = most important. Also skin, fetal tissue, granulation tissue. Vascular type of Ehler’s Danlos effects this

Question 11

Collagen type IV

Answer 11

Basement membrane
Alport - defective
Goodpastures - Ab’s against it

Question 12

Let’s say I have scurvy, how does that affect my collagen

Answer 12

Hydroxylation of proline and lysine requires vitamin C in the Rough ER

Question 13

How do Ehler’s Danlos and Menke’s affect collagen synthesis? you idiot.

Answer 13

Cross-linking.

Menke’s disease - no copper. need that to cross link - lysyl oxidase enzyme

Question 14

Blue sclera
dental problems
fracturing bones

Answer 14

Osteogenesis Imperfecta.

Auto Dominiant. type I collagen

Question 15

Alpha 1 antitrypsin express what kind of genetic dominance

Answer 15

Codominance

just like blood types. Both alleles contribute to phenotype in heterozygotes

Question 16

Literally can’t not eat. Eat everything. nom nom nom. I’m fat and disabled. And probably hungry.

Answer 16

Prader-Willi syndrome
mom gene - silent (imprinted)
Paternal gene - deleted.

Question 17

Hahaha laughing is fun and my arms are like a Puppet.

btw, I’m disabled and have seizures hahaha. haha. ha.

Answer 17

AngelMan Syndrome
dad gene - imprinted
Mom gene - deleted.

Question 18

I have a shit-ton of colon polyps. But I’m just a tween! Is that normal?

Answer 18

Nah. You shouldn’t have those. It’s Familial adenomatous polyposis. It’s autosomal dominant.

Question 19

Xanthoma on achilles tendon.

Answer 19

Familial hypercholesterolemia

Question 20

Weird bumps all over skin, keep sneezing blood, peeing blood, GI bleeds.

Answer 20

Hereditary telangictasia. Osler-weber-rendu

Question 21

RBC’s are just spheres.

Answer 21

Hereditary spherocytosis. Spectrin or ankyrin defect. get your spleen out.

Question 22

Ear cancer on both sides. cataracts as a kids.

Answer 22

Neurofibromatosis II

Question 23

brown skin spots. pheochomocytoma. eye problems

Answer 23

Neurofibromatosis I

Question 24

Recurrant pulmonary infxns, pseudomonal. Bronchitis. steatorrhea (fat in shit)

Answer 24

Cystic fibrosis

Question 25

Use upper extremities to stand

Answer 25

Gower maneuver Duchenne frameshift on dytrophin gene

Question 26

Partially functional dystrophin gene

Answer 26

Becker dystrophy | it's duchenne's but not a framshift, so it still kinda works.

Question 27

tiny balls bald muscles suck and arrythmia

Answer 27

``` Myotonic dystrophy my tonia my testes my toupee my ticker ```

Question 28

Huge balls large jaw and ears autistic

Answer 28

Fragile X | methylation and expression of FMR1 gene

Question 29

Autosomal Dominant diseases.

Answer 29

``` Hunting MEN FAP thier Tubes and Shperes in Hip Cafés and get Tele Chols from Li about Marfans. Huntingtons Multiple Endocrine Neoplasia Tuberous Sclerosis Hereditary Sphereocytosis von Hippel-Lindau Cafe = Neurofibromatosis type 1 (NF2 is also dominant but doesn't have cafe au lait spots) familial hyperCHOLesterolemia Li-Fraumeni Marfans ```

Question 30

Autosomal Recessive diseases. Think Recess

Answer 30

Wilson is on Recess in Kindergarten. He Hurls a Pokemon pop Sickle with his fingers at his Albino sister who he called a homo because she got a Beta fish from the Store. Wilson's Disease Kartagener's syndrome Hurler's Disease pokemon = PKU Sickle Cell finger = sphingolipidoses (except fabry's) Albanism sister = CYSTic fibrosis and HOMOCYSTinuria Beta = Thalassemia store = Glycogen Storage diseases

Question 31

brushfield spots

Answer 31

white things of the iris of someone with down syndrome