BLUE BOXES Flashcards
gastric proton pump inhibitors
proton pump = H+/K+ ATPase
parietal cells
pumps H+ to lumen -> HCl
PPIs decrease HCl production (reduce acidity)
chelating agents for lead poisoning
Pb+ binds to heme, impairs heme synthesis treat w/ Ca-EDTA (chelating agent) displaces Pb from heme abdominal pain, anemia, headaches (heme not formed, RBCs, anemia)
troponin in myocardial infarction
isozyme in wrong place (blood, different organ, etc) -> sign of damage/disease
ex: run troponin lab test to indicated MI
respiratory acidosis
hyporventilation -> rise in CO2 -> drives equation to left -> increase H+, dec. pH
metabolic acidosis
strong acid (ex: lactate, ketone bodies) -> diarhea -> loss HCO3- -> drive equation to left -> increase H+, dec. pH
metabolic alkalosis
strong base (antiacid) or loss of acid (vomiting) -> increase HCO3- -> drive equation to right -> increase CO2
phosphatidylserine significance
marker for apoptosis when moved to extracellular membrane (typically facing inside of cell)
Niemann-Pick Disease
Deficiency: acid spingomylenase
Buildup of SM in lysosomes, bone marrow, CNS, liver
Result: hepatomegaly, neuro symptoms, cherry red spot on eye
Type O Blood Group
universal donor
RBC has no Ags on surface
has Abs against A + B
can only receive from type O
Type AB Blood Group
universal acceptor
RBC has Ag A + B on surface, no Abs against either type
Spur Cell Anemia
high levels of cholesterol -> decreased fluidity of RBCs membranes -> lyse in capillaries of the spleen
Cardiotonic Drugs
used to treat CVD (ouabain)
inhibit Na+/K+ATPase -> increased Na+ in cell -> increase Ca2+ in cell due to slowed NCX -> inc. contraction
Cystinuria
Deficiency: dibasic AAs transporter -> cystine crystals, renal stones -> renal colic
Hartnup disease
deficiently in nonpolar AA transporter -> tryptophan buildup in kidney/intestine –> failure to thrive, nystagmus, ataxia
Cystic Fibrosis
mutation in CFTR (Cl- transporter) -> Cl- buildup in lung cells -> Na+ and H2O follow -> mucous surrounding cells becomes dehydrated/sticky
Crohn’s Disease
diseased bowel sections -> poor absorption -> nutritional deficiencies
Sweeteners - sugar alcohols
used as artificial sweeteners
little is metabolized
absorbed in SI -> excreted in urine -> less fluctuation in BS
Gallstones
gall bladder stores bile, if contains too much cholesterol -> bile hardens to stones
Fanconi-Bickel syndrome
GLUT2 transporter deficiency
glucose can’t be released, glycogen gets trapped in liver -> hepatomegaly
Fructose 1,6 bisphosphate deficiency
enzyme in glycolysis deficient -> hypoglycemia
Von Gierke Disease/ GSD 1
deficiency in glucose-6-phosphatase -> free glucose can’t get out of liver b/c its phosphorylated -> hypoglycemia, lactic acid, hepatomegaly (glycogen buildup)
High fructose corn syrup -> obesity
fructose enters glycolysis after rate limiting step (PFK) -> converted easier to FAs
galactosemia
deficiency in galactose enzyme -> galactose in blood -> cataracts
GSD0
glycogen synthase deficiency –> hypoglycemia
GSD II/Pompe Disease
acid maltase deficiency
lysosomal glycogenolysis disrupted -> glycogen buildup (can’t break it down)
ENZYME REPLACEMENT THERAPY
GSD III/Cori Disease
deficiency in debranching enzyme of glycogenolysis -> enlarged liver from glycogen buildup
GSD IV/Andersen Disease
deficiency in glucosyl (4:6) transferase -> can’t branch glycogen -> enlarged liver, cirrhosis
GSD V/McArdle Disease
deficiency in muscle glycogen phosphorylase in muscle (RL enzyme of glycogen breakdown)
no glycogen production in muscle
GSD VI/Her’s Disease
deficiency in liver glycogen phosphorylase
(RL enzyme in glycogen breakdown), enlarged liver
MCAD Deficiency
Medium chain FAs can’t be broken down
secondary carnitine deficiency (largely excreted)
FAs accumulate in liver, elevated ammonia, depend on glucose for energy
2-oxoglutaric acid aciduria
developmental delay, metabolic acidosis
fumarase deficiency
neuro impairment, fatal, encephalopathy, increase excretion of intermediates of TCA cycle
Luft’s disease
first mito disorder discovered –> hypermetabolism (high caloric intake, no weight gain, weakness
uncoupled ETC
Hyperhomocysteinemia
Caused by Vitamin deficiciencies (B6, B12, and folic acid) —> defective metabolism —> atherosclerotic HD and stroke, eye lens dislocation, osteoporosis, mental retardation
Phenylketonuria (PKU)
Defects in phenylalanine hydroxylase activity
Inborn error —> musty urine smell
Disrupt Neuro transmission, block AA transport in the brain, block myelin formation
Maple Syrup Urine Disease
Deficiency of keto acid dehydrogenase —> branched chain AAs in urine —> burnt maple sugar smell in urine
Toxic effects on brain
Limit brained chain AA (Val, Leu, Ile)
Grave’s disease
Hyperthyroidism—> treat w/ agents that block thyroglobulin (produces the thyroid hormones)
albinism
Tyrosine to melanin reaction is deficient —> Lack of melanin
Parkinsonism
Neural tissue destruction —>Loss of dopa to dopamine —> tremors, difficulty in movement
Defects in tyrosine hyroxylase
Ammonia toxicity
Ammonia can cross blood brain barrier
PH imbalance, edema,
Inhibits TCA cycle b/c of decreased a-ketoglutarate
Sulfa drugs
Only act on bacterial enzymes, don’t harm humans
Inhibits DNA replication
Methotrexate
Down regulates purine synthesis
Used as cancer drug
Acyclovir
Deprive cells of GMP
Antiviral
Incorporates itself into DNA -> terminates replication
Can be used to promote healing of sores
Severe combined immunodeficiency
B and T cells impaired
Low levels of dNTPs impair DNA synthesis —> immune system is compromised
Gout
High levels of Uric acid —> accumulates in joints, especially lower extremities
Can be triggered by high purine diet (meat, EtOH)
Diagnosed by UA
Lesch-Nyah’s syndrome
Defect in purine salvage pathway —> high uric acid —>
—> gout, kidney stones, poor muscle control, mental retardation
