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168 Cards in this Set
- Front
- Back
von gierke:
deficiency presentation (2) |
G6Pase deficiency => hypoglycemia, heptosplenomegally
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pompe's:
deficiency life expectancy |
cardiac α 1,4-glucosidase defieciency => DIE early
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cori's
enzyme defieciency biopsy |
debranching enzyme deficiency => short branches of glycogen
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anderson's:
deficiency biopsy |
branching enzyme deficiency => long chains of glycogen
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McArdels
deficiency presentation |
muscle phosphorylase deficiency => muscle cramps with excercise
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essential fructosuria?
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fructokinase deficiency => excrete fructose (still have hexokinase)
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fructosemia
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"fuctose intolerance" (aldolase B deficiency) => liver damage
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what does galactokinase deficiency cause?
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cataracts
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what does galactosemia cause? give 3 effects
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cataracts, mental retardation, liver damage
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what does carnitine shuttle do?
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FA transport out of the mitochondria
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what lysosomal diseases have a cherry red macula?
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tay-sachs, neimann-pick
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what lysosomal diseases have a gargoyle face?
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gaucher's, hurler's
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tay-sachs disease
deficiency presentation |
hexoaminidase A deficiency => blindness, incoordination, dementia
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sandhoff's
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hexosaminidase A/B deficiency
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gaucher's: enzyme deficiency, symptom, pathology
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glucocerebrosidase deficiency => wrinkled tissue MP, bone pain
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neimann-pick: enzyme deficiency and inclusion bodies
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sphingomyelinase deficiency => zebra bodies
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fabry's
enzyme deficiency sign symptom mode of inheritance |
alpha galactosidase deficiency => corneal clouding, attacks baby's kidney's, x-linked
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krabbe's
enzyme deficiency and inclusion body |
beta galactosidase deficiency => globoid bodies
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metachromatic leukodystrophy
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arylsulfatase deficiency => childhood MS
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hunter's
enzyme deficiency prognosis |
Iduronidase deficiency, milder form
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hurler's: enzyme deficiency
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iduronidase deficiency, worse form
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lesch-nyhan
enzyme deficiency give 3 signs |
(HGPRT deficiency) => gout, neuropathy, self-mutilation
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what do white diaper crystals suggest?
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excess orotic acid
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what does biotin donate methyl groups for?
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carboxylation
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what does THF donate methyl groups for?
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nucleotides
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what does SAM donate methyl groups for?
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all other reactions
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heterochromatin vs. euchromatin
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heterochromatin: tightly coiled
euchromatin: loose (10 nm fibers) |
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purines
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A,G
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pyrimidines
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C, U, T
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silent mutation
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changes leave the same aa
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point mutation
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changes 1 base
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transition
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changes 1 purine to another purine
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transversion
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changes 1 purine to pyrimidine
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frameshift mutation
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insert or delete 1-2 bases
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missesnse mutation
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mistake aa substitution
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nonsense mutation
example |
early stop codon
ie. neurofibromatosis I |
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southern blot
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DNA
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northern blot
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RNA
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western blot
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protein
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essential aa
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"PVT TIM HALL"
Phe, Val, Trp, Thr, Ile, Met, His, Arg, Leu, Lys |
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essential fatty acids
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linoleic and linonelic
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acidic aa
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asp, glu
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basic aa
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lys, arg
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sulfur-containing aa
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cys, met
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O-bond aa
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ser,thr, tyr
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N-bond aa
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asn, gln
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branched aa
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leu, ile, val
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aromatic aa
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phe, tyr, trp
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smallest aa
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gly
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ketogenic aa
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lys, leu
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glucogenic + ketogenic
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PITT
Phe, Iso, Thr, Trp |
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glucogenic aa
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all the rest
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what aa does trypsin cut?
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basic aa: lys, arg
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aa does beta-ME cut
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cys, met
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what aa acid hydrolysis denature?
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asn, gln
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chymotrypsin cut
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aromatic aa: phe, tyr, trp
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what aa turns yellow on nurhydrin reaction?
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pro
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what does carboxypeptidase cut?
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left of any aa on the carboxy terminal
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what does aminopeptidase cut?
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right of N terminus
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what does CNBr cut?
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right of Met
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what does mercaptoethanol cut?
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right of cys and met
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what does elastase cut?
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right of gly, ala, ser
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what does trypsin cut?
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basic aa: arg, lys
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what does chymotripsin cut?
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phe, tyr, trp
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what does alpha anti-trypsin do?
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inhibits trypsin from getting loose
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PKU
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no Phe => Tyr (via Phe hydroxylase): nurtrasweet sensitivity, mental retardation, pale, blond hair, blue eyes, musty odor
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albinism
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No tyr => melanin (via tyrosinase)
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maple syrup urine disease
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defective metabolism of branched aa (leu, iso, val) => aa leak out
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homocystinuria
enzyme deficiency what aa are missing? |
no homocystine => cys: "COLA" stones. Cystine, Ornithine, Lysine, arginine
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pellegra
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niacin deficiency: dermatitis, diarrhea, dementia, death
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hartnup's
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no trp => niacin + serotonin
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what causes anterior leg bowing?
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neonatal syphilis
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what causes lateral leg bowing?
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rickets
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names of B vitamins
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vit B1 = thiamine
vit B2 = riboflavin vit B3 = niacin vit B4 = lipoic acid vit B5 = pantothenic acid vit B6 = pyridoxine vit B9 = folate vit B12 = cobalamin |
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what does vit A do?
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night vision, CSF production, PTH
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what does vit B1 do?
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dehydrogenases, transketolase (PPP) factors
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what does vit B2 do?
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FAD factor
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what does vit B3 do?
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NAD factor
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what does vit B4 do?
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glycolysis no known diseases
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what does vit B5 do?
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part of acetyl coA, no known diseases
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what does vit B6 do?
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transaminase cofactor
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what does vit B9 do?
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nuclear division
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what does vit B12 do?
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cofactor for HMT and MMM
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what does vit C do?
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collagen synthesis
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what does vit D do?
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mineralization of bones, teeth
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what does vit k do?
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clotting
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what does biotin do?
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carboxylation
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what does calcium do?
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neuronal function, atrial depolarization, SM contractility
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what does copper do?
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collagen synthesis
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what does iron do?
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Hb function, electron transport
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bronze pigmentation
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Fe deposit in the skin
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bronze cirrhosis
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Fe deposits in liver
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bronze diabetes
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Fe deposit in pancreas
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hemosiderosis
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Fe overload in bone marrow
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hemochromatosis
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Fe deposit in organs
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what does Mg2+ do?
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PTH and kinase cofactor
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what does Zn2+ do?
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taste buds, hair, sperm function
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what does Cr2+ do?
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insulin function
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what does Mb2+ do?
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purine breakdown (xanthine oxidase)
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what does Mn2+ do?
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glycolysis
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what does Se do?
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heart function => dilated cardiomyopathy
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what does Sn do?
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hair
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what is kwashiorkor do?
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malabsorption, big belly (ascites), protein deficiency
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what is marasmus?
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starvation, skinny, calorie deficiency
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where does the pre label send stuff to?
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ER
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where does the pro label send stuff to?
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golgi
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where does the mannose-6-P send stuff to?
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lysosome
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where does the N-terminal sequence send stuff to?
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mitochondria
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what are the 4 types of collagen?
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"SCAB"
Type I: skin, bone Type II: connective tissue, aqueous humor Type III: arteries Type IV: basement membrane |
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how does scleroderma present?
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tight skin
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how does ehlers danlos present?
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hyperstrechable skin
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how does marfan's present?
joints, hand, wing span vs height, heart (3), eyes |
hyperextensible joints, arachnodactyly, wing span, is longer than height, aortic root dilation, aortic aneurysm, mitral valve prolapse, dislocated lens from bottom of eye => look up
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how does homocystenuria present?
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dislocated lens from top of eye => look down
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how does kinky hair disease present?
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hair looks like copper wire (cu deficiency)
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how does scurvy present?
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bleeding gums, bleeding hair follicles
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how does takayasu present?
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asian female with very weak pulse
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how does osteogenesis imperfecta present?
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shattered bones, blue sclera
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what is the most common intracellular buffer?
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protein
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what is the most common extracellular buffer?
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bicarbonate
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zwitterion
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a molecule with one negative and one positive end
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isoelectronic point
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the pH at which there is no net charge
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rate limiting enzyme in glycolysis
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PFK-1
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rate limiting enzyme in gluconeogenesis
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pyruvate carboxylase
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rate limiting enzyme in HMP shunt
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G-6PD
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rate limiting enzyme in glycogenesis
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glycogen synthase
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rate limiting enzyme in glycogenolysis
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glycogen phosphorylase
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rate limiting enzyme in FA synthesis
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AcCoA carboxylase
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rate limiting enzyme in beta oxidation
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CAT-1
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rate limiting enzyme in cholesterol synthesis
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HMG CoA reductase
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rate limiting enzyme in ketogenesis
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HMG CoA synthase
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rate limiting enzyme in purine synthesis
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PRPP synthase
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rate limiting enzyme in pyrimidine synthesis
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asp transcarbamoylase
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rate limiting enzyme in TCA cycle
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isocitrate dehydrogenase
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rate limiting enzyme in urea cycle
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CPS-1
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rate limiting enzyme in heme synthesis
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delta-ALA synthase
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what are the catabolic pathways that create energy?
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"ABC"
acetyl CoA production beta oxidation citric acid cycle |
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what are the anabolic pathways that stores energy?
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"EFGH"
ER, Fatty acid synthesis, glycolysis, HMP shunt |
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what are both anabolic + catabolic pathways that create energy?
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"HUG"
Heme, Urea, Gluconeogenesis |
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isomerase
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creates an isomer
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epimerase
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creates an epimer, which differs around 1 chiral carbon
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mutase
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moves side chain from one carbon to another (intrachain)
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transferase
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moves side chain from one substrate to another (intrechain)
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kinase
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phosporylates using ATP
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phosphorylase
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phosphorylates using Pi
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carboxylase
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forms c-c bonds (w/ ATP and biotin)
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synthase
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consumes 2 substrates, uses ATP
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phosphatase
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breaks phosphate bonds
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hydrolase
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breaks a bond with water
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lyase
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cut c-c bond with ATP
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dehydrogenase
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removes H with a cofactor
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thio do
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breaks s bond
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diffusion
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from high to low concentration
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active transport
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goes against concentration gradient
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zero kinetics
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metabolism independent of concentration
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1st order kinetics
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constant drug percentage metabolism over time, depends on drug concentration
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efficacy
when is this lower? |
max effect regardless of dose (lower with non-competative antagonist)
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what effects efficacy?
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Vmax
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potency
when is this lower? |
amount of drug needed to produce effect (lower with comp antagonist)
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what affects potency?
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Km
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Kd
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concentration of drug that binds 50% of receptors
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EC50
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concentration of drug that produces 50% of maximal response
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competitive inhibition
what happens to Vmax and potency |
fights for the active site, no change in Vmax, potency decreases
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non-competitive inhibition:
what happens to km, efficacy and Vmax |
binds a regulatory site, no change in Km, efficacy decreases, decrease Vmax
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endothermic rxn
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consumes heat
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exothermic rxn
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gives off heat
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peak level
|
11.4 hrs after dose (too high => decrease dose)
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trough level
|
2 hrs before dose (too high => give less often)
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what is t1/2?
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half life, the time it takes for the body to use half of the drug ingested
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