Biochem Flashcards
fat soluable vitamins
A,D,E K
B complex deciencies SX
dermatitis, glossitis, diarrhea
function of Vit A
eyes - found in liver and leafy green veg
low Vit A
night blindness and dry skin
vit OD that can cause bad birth defects
A (retin-A)
thiamine/B1 function
cofactor for several metabolic reactions
thiamine/B1 deficiency
wernicke-korsakoff
dry/wet beri-beri
low ATP from impaired glucose breakdown
wernicke-korsokoff
confusion, blindness, ataxia, confabulation (damage to mamillary bodies)
dry beri-beri
polyneuritis, symmetrical muscle wasting
wet beri-beri
high output cardiac failure, edema
B2/riboflavin function
cofactor in oxidation and reduction
B3/niacin decienciy
pellegra (diarreha, dementia, dermititis)
B2/riboflavin deficiency
cheiliosis, corneal vascularization
vit B6/prydoxine function
cofactor in transamination, used to synthsize NTs
vit B6/prydoxine deficney
convulsions, hyperirritibility, peripheral neuropathy, sideroblastic anemias
B9/folic acid function
converted to THF - needed for nitrogenous bases in DNA (found in leafy green veg - FOLiage)
B9/folate deficiency
macrocytic, megaloblastic anemia w/o neuro sx - birth defects
drugs that can cause folate deficincy
phenytoin, sulfanomanides, MTX
cobalmin/B12 function
transfers methyl groups
B12 decifncy causes
macrocytic, megaloblastic anemia with neuro sx. - can be irreversable with time
casues of B12 deficicncy
malabsorption, lack of IF (pernicous anemia) or lack of terminal ilium
vitamin C use
antiox, keeps Fe reduced for absorption, collegen synth, needed to convert dopamine to NE
vit c deficncy
scurvy, immune response weakaning
Vit D use
intestinal absorption of Ca and phopshate
Vit D deficncy
ricketts/osteomalacia, tetany
storage form of D
25-OH
active form of D
1.25-OH (calcitrol)
vit E function
antioxidant, protects RBCs and membranes from free radical damage
E deficency
hemolytic anemia, muscle weakness, spinocerebellar tract demylination
Vit K function
coagulation (factors 2, 7, 9, 10 and proteins C and S)
Vitamin K used for ____ OD
warfarin
can cause vit K defciency
just being born, use of broad spectrum antibiotics,
antidote for methanol/ethyline glycol
fomepizole (inhibits alchohol dehydrogenase)
drug that makes you sick after drinking EtOH
disulfram (inhibits acetaldehyde dehydrgenase)
how EtOH can cause hypoglycemia
increaes NADH/NAD+ ratio in liver - causing diversion of pyruvate to lactate - inhibts gluconeogenesis and syimulates fatty acid synthesis
malnutrition with edema and fatty liver (kid with swollen belly)
kwashikor (kwashi is squishy) - protein malnutrition
malnutrition with muscle wasting
marasmus (energy malnutrition)
processes in mitochondria
fatty acid oxidation
acytl-CoA priduction
TCA cycle
ox phos
processes in cytoplasm
glycolysis fatty acid sythesis HMP shunt protein synthesis cholesterol synthesis
processes in both cytoplasm and mitochondria
Heme synth, urea cycle, gluconeogenesis
rate determining enzyme in glycolosis
PFK-1
rate determining enzyme in gluconeogenesis
fructose-1,6-bisphoshatase
rate determining enzyme in TCA
isocitrate dehydrogenase
rate determining enzyme in glycogen sythesis
glycogen synthase
rate determining enzyme in in glycogenolysis
glycogen phosphorylase
rate determining enzyme in n HMP shunt
G6PD
rate determining enzyme in in de novo pyrimidine synth
carbamoyl phosphate synthetase
rate determining enzyme in in de novo purine synth
glutamine PRPP amidotransferase
rate determining enzyme in in Urea cycle
carbamoyl phosphate synthetase I
rate determining enzyme in fatty acid synth
acythl-CoA carboxylase
fattyacid oxidation
carnitibe acyltransferase I
ketogenises
HMG-CoA syththase
cholersterol synthesis
HMG-CoA Reductase
aerobic metabolism produces how many ATP from one glucose
32 (30 in heart/liver)
anaerobic metabolism produces how many ATP from one glucose
2
glucokinase found in
liver and pancreas B cells
function of hexokinase
at low glucose concentrations - sequesters glucose in tissue
at high glucose concentrations - stores glucose in liver
arsenic causes
inhibition of lipoc acid. sx are vomiting, rice water stools and garlic breath
purely ketogenic amino acids
lysine and leucine
pyruvate dehydrogenase deficency results in
lactic acidocis - (X linked) causes neuro deficits - treat with high fat and lysine/leucine
ox/phos electron transport inhibitors
rotenone, cyanide, antimycin A, CO
ox/phos synthase inhibitors
oligomycin
uncouples ATP production from electron transport
2.4.DNP, aspirin, thermogenin (brown fat)
gluconeogenesis irrevisble enzymes
pyruvate carboxylase
PEP carboxylase
fructose 1.6. bisphosphatase
G6P
G6PD effects on blood
heinz bodies
bite Cells
(X linked)
can bring on G6PD sx
fava beans, sulfonamides, primaquine, anti-TB drugs, infections
causes fructose intolerance
deficnecy of aldolase B
hypoglycemia, jaundice, cirrosis, vomitingle
fructose intolerance
infantile cateracts, may lack social smile and/or can;t tract pbjects
galactokinase deficency
failure to thrive, jaundice, hepatomegaly, infantile cataracts, MR
galactosemia (lack of galactose-1-phosphate uridyltransferase)
purley glucogenic essential Amino acids
met Val His
sx of amnomia intox
tremor (flapping hands) slurring, somnolence, vomiting, cerebreal edema, blurring vision
most common urea cycle disorder
orthithine transcarbamoylase deficneicy
products of phenylanaline
thyroxine, melanin, dopamine, NE, Epi
products of tryptphan
NAD/NADP, sertonin, melatonin
products of histadine
histamine
products f glycine
Heme
products of arginine
creatine, urea, Nitric oxide
produces of Glu
GABA, glutathione
MR, growth delay, seziures, fair skin, musty odor
PKU
effect on kid of maternal PKU
microencepphaly, MR, slow growth, congenital Heart defects
black urine, srthralgias, dark tissues, brown schlera
alkapatonuria
results in albinism
lack if tyrosiase or defective tyrosine transporters
or lack of migration of neural crest cells
MR, osteoporosis, tall stature, lens down and in, CVD
homocystinuria
can cause renal staghorn calculi
cystinuria
causes maple syrup urine dx
blocked degradation of branched amino acids (Ile, Leu, Val)
severe fasting hypoglycemia, high blood lactate, lots of glycogen in liver, hepatomegaly
type I/ von greirke’s dx (lack of glucose 6 phosphate)
cardiomegaly and early death
type II/ pompe’s dx (lack of acid maltase)
high glycogen in muscle, painful muscle cramps with excersize, myogloburina with exerise
type V/Mcardle’s (lack of skeletal muscle glycogen phophorlyse)
peripherl neuropathym angiokeratomas, CV/renal dx
fabry’s (lack of a-galactosidase) (XR)
hepatosplenomagaly, aseptic necrosis of femur, crumpled tissue macrophages
gaucher’s (lack of glucocerbrosidase)
most common lysosomal storage dx
pregressive neurodegeneration, hepatomegaly, cherry red macula, foam cells
neimann-pick (lack of sphingomylase)
preoressive neurodegeneration or mental delay, cherrt red maculam lysosomes with onion skin NO HEPATOMAGALY
tay-sachs (lack of hexominadase A)
peripheral neuropathy, developmenal delay, optic atrophy, globoid cells
Krabbe’s dx (Lack of galactocerebrosidase)
develomental delays, gargoylism, airway obstruction, corneal clouding, hepatosplenomagaly
hurler’s (a-l-iduronidase)
mild hurler’s with agressive behaviort and normal eyes
hunter’s (idorunate sulfatase deficncy) - XR
causes inability to transport LCFAs into mitochondria
carnitine deficnency
MOA of statins
inhibit HMG-CoA reductase (RLS of cholesterol syntheis)
degrated dietaryTG in SI
pancreatic Lipase
degrades TG stpred in adipose
hormone sensitive lipase
binds LDL receptor
B-100
catylazes esterification of cholesterol
LCAT
delivers diertary TG ti peripheral tissue
chylomicron
delivers hepatic cholesterol to peripheral tissue
LDL
familal hypercholesterolemia findings
high LDL and cholesterol - causes early MI and AVD
failure to thrivem steatorrhea, acanthocytosis, ataxia, night blidnness
abetalipoproteinamia (low chylomicron and VLDL synth and secretion)
MTP gene mutation
