Biochem Flashcards
leukotriene targeted drugs
montelukast
zileutin
Rb
tumor suppressor
osteosarcoma, retinoblastoma
Niacin side effects
flushing of the face
can be aleviating by taking aspirin
Cystinuria
AR
defect in aa transporter for
cysteine, orthithine, lysine, arginine
recurrent stones
Chediak-Higashia syndrome mechanism
microtubule polymeraization defect leading to decreased phagocytosis
vincristine
Mphase specific
prevents microtubule polymeralization
Chediak HIgashi syndrome symptoms
recurrent pyogenic infections
partial albinism
vit c
proline hydroxylation in collagen synthesis
McArdle’s disease
AR
glycogen phosphorylase
increased glycogen in muscle that can’t be broken down
painful cramps, myoglobinuria
RNA polymerase I
makes rRNA
RNA polymerase II
makes mRNA
RNA polyermase III
makes tRNA
alpha-amanitin
inhibits RNA polyermase II
Kwashiorkor
protein malnutrition (tryptophan and lysine) Malnutrition, Edema, Anemia, Liver
21-hydroxylase def
decreased mc: hypotension, hyperkalemia
pseudoherm in females
17alpha-hydroxylase def
increased mc: hypertension, hypokalemia
males: ambiguous genitalia/undescended testes
females: normal, lack 2 sex characteristics
11b-hydroxylase def
decreased aldosterone, increased c: hypertension
masculinization
rate limiting enzyme of fatty acid synthesis
acetyl-CoA carboxylase
treatment for uterine leiomyomas
GnRH agonist/leuprolide
sympathetic alpha one
increases vascular smooth muscle contraction
Gq (phospholipase c)
phospholipase C
PIP2 –> Dag and IP3
DAG
protein kinase 3
IP3
Ca –> smooth muscle contraction
sympathetic alpha two
decreased sympathetic outflow
qi (adenylyl cylase)
adenylyl cyclase
Camp –> protein kinase a
protein kinase a
increased ca in heart
myoslin light chain kinase (smooth muscle)
sympathetic beta one
increased heart rate, contractility adenylyl cyclase (gs)
sympathetic beta two
vasodilation, bronchodilation
increases HR and contractility
Gs (adenylyl cyclase)
Niacin/B3 def
diarrhea, dermatitis, dementia
fatty liver in alcoholics
increased NADH:NAD ratio
first step of urea cycle
occurs in hepatocyte mitochondria
ornithine + carbamyl phosphate –> citrulline
Hartnup disease
AR
defective neutral amino acid transporter
tryptophan excretion in urine, can lead to pellagra
I cell disease
addition of mannose-6-phosphate to lysosome proteins
mannose-6-phosphate
add to traffick to lysosomes
nitroprusside
cyanide toxicity (cherry red lips)
mechanisms of cyanide toxicity
inhibit mitochondrial cytochrome oxidase
binds ferrous ion in hemoglobin
hereditary nonpolyposis colon cancer
mismatch repair defect
alpha ketoacid dehydrogenase def
maple syrup urine disease (AR)
homogentistic acid oxidase def
alkaptonuria (AR)
decreased phenylalanine hydroxylase
PKU (AR)
decreased tetrahydrobiopterin cofactor
PKU (AR)
cystathionine synthase def
homocystinuria (AR)
homocysteine methyltransferase def
homocystinuria (AR)
requires B12!
Maple Syrup Urine Disease
blocked degradation of branched AA (Ile, Leu, Val)
decreased alpha ketoacid dehydrogenase
electron carriers
NADH
NADPH
FADH2
acyl group carriers
coenzyme A
lipoamie
1 carbon unit carriers
tetrahydrofolates
aldehyde carriers
TPP
Ch3 carriers
SAM
Co2 carriers
Biotin
NAD+/NADP+ vitamin
B3
FAD+ vitamin
B2
NAD+ used in
catabolic processes
NADPH used in
anabolic processes
respiratory bust
p450
glutathione reducase
Li-Fraumeni syndrome
p53
Lesch-Nyhan syndrome
def in purine salvage due to absence of HGPRT results in excess uric acid production and de novo purine synthesis
Lesch-Nyhan syndrome transmission
x linked recessive
Lesch-Nyhan symptoms
retardation, self mutilation
hyperuricemia/gout
B12 def
choreoathetosis
donepezil
ache inhibitor (alzheimer’s treatment)
hypertriglyceridemia treatment
fibrates (increase activity of lipoprotein lipase)
hexokinase
high affinity/low Km
low Vmax
inhibited by g6p
glucose –> glucose 6 p
hexokinase or glucokinase
glucokinase
Liver and B cells of pancreas
low affinity/high Km
high Vmax
induced by insulin
SGLT location
enterocytes, nephrons