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57 Cards in this Set

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Musty Odor
PKU
Dark Urine when standing
Alkaptonuria
intense muscle cramps, pain after excercise
McArdle's (Typle IV glycogen storage Dx-- muscle, can't break glycogen down)
mineral oil and fat soluable vitamins
mineral oil can cause fat abs syndromes
Vitamin B1
Thiamine (TPP)
Vitamin B2
Riboflavin (FAD)
Vitamin B3
Niacin (NAD)
Vitamin B5
Pantothenate (CoA)
Vitamin B6
Pyridoxine (PP)
Vitamin B1 and the HMP Shunt
Vitamin B1 is a cofactor for oxidative decarboxylations of alpha-KG's; cofactor for HMP shunt
Dry Beri Beri and Wet Beri Beri
From B1 (thiamine) deficiency

Dry: polyneuritis, muscle wasting
Wet: High Output Failure (heart), edema
Vitamin B2 deficiency (Sx)
2 C's: Cheilosis and Corneal Vascularization
Hartnup Dx
Decreased tryptophan absorption; NAD from tryptonphan
Sx of Pellegra
3 D's: Diarrhea, Dementia, Dermatitis
Vit B5 Deficiency
B5 ->CoA

Dermatitis, enteritiis, Alopecia, adrenal insufficiency
3 Fxns of Pyridoxine
Heme Synthesis, transamination, decarboxylation
Source of Vit B12
only found in animal products
Storage of B12
stored in the liver
malabs test = schilling test
Source of Folate
Folate from Foilage; green leafy
Relation between Folic Acid and PABA
PABA is precursor of Folic Acid

PABA derivatives are used in Pharm (since bact use this)-- sulfa drugs
Biotin Deficiency
Caused by antibiotics and Raw Eggs (have avidin)

Sx = dermatitis and enteritis
Fxn of Biotin
Carboxylation Rxns
3 fxns of vit C
1) Crosslinking Collagen (Hydroxylation of proline and lysine)
2) Fe2+ absorption- keeps Fe in 2+ redox state
3) cofactor for Dopamine -> NE
Vit D2 and D3
D2 -> Ergo -> abs in milk
D3 made from sunlight exposure
Dx associated with excess vit Dx (active)
Sarcoidosis (Mphages make 1-hydroxy enzyme)
Cell associated with Vit E
Vit E is for Erythrocytes
Vit K and antibiotics
Antibiotics can cause deficiency b/c bacteria syn vit K
Sx of Zinc deficiency
delayed wound healing, hypogonadism, decreased adult Hair
Histones in nucleosome
ALL but H1
nucleosome -> 30 nM fiber
Stuctural feature of thymine (NT)
Thymine has methyl
3 AA's used for purine synthesis
GAG: Glycine, Aspartate, Glutamine
Nonsense Mutation

Missense Mutation
stop codon

Missense -> change in AA
Orgins of replication in Euk
Euk -> many, Prok's -> one
DNA pol I and Pol III
Pol III -> replication (5' -> 3')
Pol I -> degrades primer, fills gaps
HNPCC defect
defect in mismatch repair - newly synthesized unmethylated DNA checked for mismatches
Xeroderma Pigmitosum defect
nucleotide excision repair (from UV damage)
5' and 3' ends
5' -> 3 phosphates
3' -> OH
RNA pol I, II, and III
Pol I ->rRNA
Pol II -> mRNA
Pol III -> tRNA
alpha-amantin
inhibits RNA pol II (Found in Death Cap Mushrooms)
start codon
UAG (met in Euks, fmet in prok)
Stop codons
UGG
UAA
UAG
operator
site where negative regulators bind
3 steps to splicing
1) snRNP's recog transcript
2) partial lariat made (exon1 free)
3) exon1 and 2 combined, lariat released
hnRNA vs mRNA
hnRNA =heterologous = No processing
mRNA- has 3 steps of processing completed (5' cap, 3' tail, splicing)
aminoacyl tRNA synthease
used to charge tRNA's with AA (uses 1 ATP)... where specificity occurs
3 post-translational modifications
phos, hydroxylation, glycosylation
Stable Vs Labile Cells
Stable: will go from Go to G1 with signal

Labile: never go to Go, always dividing from stem cells (instestinal, etc.)
shorted phase of cell cycle
M
SER Fxn
SER -> steroid Synthesis; found high in adrenal cortex and liver
N and O linked glycosyltion sites
N -> ER
O -> gOlgi
course facial features, clouded cornea, resistant joint movements
I cell Dx: mannose-6-P deficiency leads to traffiking to oustide of cell instead of lysosome
Cop I, II and Clatherin Fxns
Cop I -> retrograde
Cop II -> anterograde (ER to golgi)
clatherin -> Golgi to PM
ON what AA's does sulfation occur?
Tyrosine
Chediak-Higashi
defect in microtubule polymerization... decreased phagocytosis
dynein vs. kinesin
dynein -> retrograde transport (ass w/ Kartenergers)
kinesin -> anterograde
% of Plasma membrane that is cholesterol? effect of increasing chol content on melting temp?
50%; increasing chol -> increasing melting temp
Locations of phosphatidylcholine
RBC, surfactant, myelin, bile