Jorb's Biochem Buzzwords Flashcards
Nucleoside vs Nucleotide
Side = Sugar Tide = phosphaTe
Orange crystals in diaper
Hyperuricemia. Probably gout –> Lesch Nyhan.
Decreased T and B cells in Infant
SCID or Adenoside Deaminase Deficiency.
Too much dATP - feedback inhibition or ribonucleotide reductase - prevents DNA synth
I’m for sure going to get colon cancer because I can’t fix my DNA. Dang.
Defective mismatch repair
think Dr. Cormier (colon cancer) MISMATCHes his clothes
Real bad sunburn after a little bit of sun in an infant. Also painful eyes.
Xeroderma Pigmentosa - defective nucleotide excision repair.
“coarse facial features”
cloudy cornea
I-cell disease
Golgi can’t phosphorylate mannose.
Dextrocardia, situs inversus, sinusitis
Kartagener Syndrome (ciliary dyskineaseia) dynein defect
Collagen type I
Bone, skin tendons, teeth, cornea, wound repair
Osteogenesis Imperfecta
Collagen type II
CarTWOlage
Collagen type III
Blood vessels = most important. Also skin, fetal tissue, granulation tissue. Vascular type of Ehler’s Danlos effects this
Collagen type IV
Basement membrane
Alport - defective
Goodpastures - Ab’s against it
Let’s say I have scurvy, how does that affect my collagen
Hydroxylation of proline and lysine requires vitamin C in the Rough ER
How do Ehler’s Danlos and Menke’s affect collagen synthesis? you idiot.
Cross-linking.
Menke’s disease - no copper. need that to cross link - lysyl oxidase enzyme
Blue sclera
dental problems
fracturing bones
Osteogenesis Imperfecta.
Auto Dominiant. type I collagen
Alpha 1 antitrypsin express what kind of genetic dominance
Codominance
just like blood types. Both alleles contribute to phenotype in heterozygotes
Literally can’t not eat. Eat everything. nom nom nom. I’m fat and disabled. And probably hungry.
Prader-Willi syndrome
mom gene - silent (imprinted)
Paternal gene - deleted.
Hahaha laughing is fun and my arms are like a Puppet.
btw, I’m disabled and have seizures hahaha. haha. ha.
AngelMan Syndrome
dad gene - imprinted
Mom gene - deleted.
I have a shit-ton of colon polyps. But I’m just a tween! Is that normal?
Nah. You shouldn’t have those. It’s Familial adenomatous polyposis. It’s autosomal dominant.
Xanthoma on achilles tendon.
Familial hypercholesterolemia
Weird bumps all over skin, keep sneezing blood, peeing blood, GI bleeds.
Hereditary telangictasia. Osler-weber-rendu
RBC’s are just spheres.
Hereditary spherocytosis. Spectrin or ankyrin defect. get your spleen out.
Ear cancer on both sides. cataracts as a kids.
Neurofibromatosis II
brown skin spots. pheochomocytoma. eye problems
Neurofibromatosis I
Recurrant pulmonary infxns, pseudomonal. Bronchitis. steatorrhea (fat in shit)
Cystic fibrosis
Use upper extremities to stand
Gower maneuver
Duchenne
frameshift on dytrophin gene
Partially functional dystrophin gene
Becker dystrophy
it’s duchenne’s but not a framshift, so it still kinda works.
tiny balls
bald
muscles suck and arrythmia
Myotonic dystrophy my tonia my testes my toupee my ticker
Huge balls
large jaw and ears
autistic
Fragile X
methylation and expression of FMR1 gene
Autosomal Dominant diseases.
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
Autosomal Recessive diseases. Think Recess
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
brushfield spots
white things of the iris of someone with down syndrome
