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65 Cards in this Set

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What does Phe become
Tyrosine (thyroxine), dopa (melanin), dopamine, NE, epi
What does tryp become
naicin (NAD, NADP), serotonin, melanin
What does histidine become
histamine
what does glycine become
porphyrin, heme
what does arg become
creatine, urea, NO
what does glutamate become
GABA (glutamate decarboxylase - requires B6)
PKU
decreased phenylalanine hydroyxlase, or decreased tetrahydrobiopterin cofactor
tyrosine becomes essential and phe builds up leading to excess phenylketones in urine
PKU sxs
MR, growth retardation, fair skin, eczema, musty body odor (aromatic AA)
Tx PKU
decrease Phe or increase tyrosine
Alkaptonuia
def of homogentisic acid oxidase in degredative pathway of tyrosine; resulting alkapton bodies cause urine to turn black upon standing
dark CT
albinism
cong def of:
tyrosinase (inability to synthesize melanin from tyrosine)
defective tyrosine transporters (decrease amts of tyrosine, thus melanin)
or lack of migration of NCC
albinism part II
lack of melanin results in increased risk for skin cancer
variable inheritance due to locus heterogenicity
homocysteinuria
cystathione synthase def (tx: decr met, incr cys in diet)
decreased affinity of cystathione snythase for b6 (increase b6)
methionine synthase def
homocystinuria sxs
MR, osteoporosis, tall stature, kyphosis, lens subluxation, atherosclerosis
cysteinuria
defect of renal tubular AA transporter for cystine, ornithine, lysine, arginine in kidneys
excess cystine- cystine stone (tx with acetazolamide to alk urine)
maple syrup urine disease
blocked degradation of branched amino acids (Ile, Leu, Val) due to decreased alpha-ketoacid DH
causes severe CNS defects, MR, and death
GLUT1
RBCs, brain
GLUT2
B islet cells, liver, kidney
GLUT4
(insulin responsive): adipose tissue, skeletal muscle
GLUT 3
all celsl
GLUT 5
small intestine
don't need insulin for glucose uptake
Brain, RBCs, intestine, cornea, kidney, liver
anabolic effects of insulin
increase glucose transport, glycogen synthesis and storage, triglyceride synthesis and stoage, Na retention (kidneys), protein synthesis (muscles)
C peptide
not present with exogenous insulin uptake
LDL and HDL
carry most cholesterol
LDL
transports cholesterol from liver to tissue
HDL
transports it from periphery to tissue
Chylomicron
delivers dietary tg to tissues and dietary chol to liver; secreted by intestinal epithelial cells
excess: pancreatitisk, lipemia retinalis, eruptive xanthomas
B48, A, C, and E
VLDL
delivers hepatic tg to peripheral tissues
secreted by liver; excess causes pancreatitis
B-100, C-II, E
IDL
formed in degradation of VLDL; delivers tg and chol to liver where they are degraded to LDL
LDL
delivers hepative chol to tissues
formed by LPL modification of VLDL in peripheral tissue; taken up by target cells via receptor-mediated endocytosis
excess: atherosclerosis, xanthomas, arucs cornea
B100
HDL
mediates centripetal transport of cholesterol (reverse cholesterol transport from periphery to liver)
acts as repository for apoC and apoE (needed for chylo and VLDL met); secreted from both liver and intestine
hyperchylomicronemia (I)
incr chylomicrons
elevated TG, chol
LPL def or altered apolipoprotein CII
hypercholesterolemia (IIa)
incr LDL
elevated chol
decr LDL receptors
combined hyperlipidemia (IIb)
incr LDL, VLDL
elevated TG, chol
hepatic overproduction of VLDL
dysbetalipoproteinemia (III)
incr IDL, VVDL
elevated TG, chol
altered apolipoE
hypertriglyceridemia (IV)
incr VLDL
elevated TG
hepatic overproduction of VLDL
mixed hypertrigylceridemia (V)
incr VLDL, chlyomicrons
elevated TG, chol
increased production, decreased clearance of VLDL and chylomicrons
lead poisoning
affects ferrochelatase and ALA dehydrase
accum of coproporhyin and ALA
AIP
def uroporpyrinogen I synthase
accum of porphobilingoen and delta-ALA
AIP sxs
painful abdomen, pink urine, polyneuropathy, psychological distrubances, ppt by drugs
PCT
def of uroporphyrinogen decarboxylase
accum of uroporphyrin
PCT sxs
bullous blistering on sun exposed skin, hypertrichosis, facial hyperpig, alcoholism, hep C
too much bilirubin
kernicterus
methemoglobin
oxidized form of Hb (Fe3) that does not bind O2 as readily but has affinity for CN
tx: methylene blue
if CN poisoning
administer nitrates to oxidize hb to mehb
carboxyhb
form of hb bound to CO
tx: massive O2, hyperbaric oxygen
Co2 transport in blood
favors T (taut) form of hb promoting O2 unloading
transported: bound, dissolve, bicarb
Taut form of Hb
low affinnity for O2
relaxed form of hb
high affinity for O2
positive cooperativity, negative allostery
does its job better
Increased Cl, H, CO2, 2,3BPG
favor T form over R form (shift dissociation curve to right leading to increased O2 unloading)
fetal hb
has lower affinity for 2,3 BPG that adult hb and thus has a higher affinity for O2
essential fatty acids
linoeic and linolenic acids (arachidonic if linoleic is absent)
who needs essential fatty acids
eicosanoids
pancreatic lipase
degradation of dietary TG in small intestine
lipoprotein lipase
degradation of TG circulating in chylomicrons and VLDLs
hepatic TG lipase
degradation of TG remaining in IDL
hormone sensitive lipase
degradation of TG stored in adipocytes
LCAT
catalyzes esterification of cholesterol
CETP
mediates transfer of cholesterol esters to other lipoprotein particles
A1
activates LCAT
B100
binds to LDL receptor, mediates VLDL secretion
C11
cofactor for LPL
B48
mediates chylomicron secretion (intestine)
E
mediates extra (remnant) uptake