05-BIOCHEMISTRY

Km(Micaelis Menten/Brig Haldane cons)

↑Km→ ↓attraction

in
competitive inh-↑Km, Vmax same
non competitive inh-Km same, ↓Vmax
uncompet inh-↓Km, ↓Vmax

s.
D-glu-pyrannose
D-Fructose-Furannose
enantiomer-mirror image
anomer-differ in C1-αD-glu, βD-glu
epimer-differ in other C(only1)(MAGI)
C2-D-Mannose
C3-D-Allose
C4-D-Galactose
C5-L-Idose
iim
diasteriomer-other term not applicable
glu oxidase-glu→ glucuronic acid
4a
disaccharide
nonreducing
glu-glu, C1-C1, trehalose(trehalase)
glu-glu, C1-C4, maltose(maltase/αglucosidase)
glu-fru, C1-C2, sucrose(sucrase)
reducing
m

glu-glu, C1-C6, isomaltose(isomaltase/αlimit dextrinase)

βglu-βgal, lactose(lactase/βglucosidase)
cellobiose
melibiose
disaccharide digestion-SI brush bord
Ai

maltotriose-glu-glu-glu

sugar–aldose—ketose
triose(3)-glyceraldehyde-diOHacetone
tetrose(4)-erythrose-erythrulose
pentose(5)-ribose,xylose-ribulose,xylulose
hexose(6)-glu,gal,mannose-fru
 seduheptulose(7)-glucoheptose-sedo heptulose

polysaccharide
(fru)n-inulin
(GAl)n-aGAr
(glu)n,lin α1→ 4-amylose
(glu)n,br α1→ 4,1→6-amylopectin
(glu)n,br α1→ 4,1→6(more)-glycogen

in
(glu)n,lin β1→ 4-cellulose
20%amylose+80%amylopectin=starch
artific glu-dextrin
(glu)n,1→ 3-dextran
N-acetyl Dglucosamine,β1→ 4-chitin

s.
dietary fibre rich in-pectin

glycosaminoglycan
(msamine+msuronic acid)n iim
(glu+glu)-hyaluronic acid-no SO4
(glu+ido)-heparin-max SO4,max –ve charge
(glu+glu)-heparan SO4
(gal+glu)-chondroitin SO4
(gal+ido)-dermatan SO4(max in cartil)
(gal+glucosamine)-keratan SO4
4a
hyaluronic acid-synovial fluid,vitreous humor,loose connective ts
heparin-mast cell
heparan SO4-skin fibroblast,aortic wall
Chondroitin SO4-Cartil,bone,tendon,lig, Cornea
dermatan SO4-skin,heart valve
keratan SO4-hair,nail,claw,horn,hoof, cornea
m

lignin
highly complic br polymer of aromat alcohol
Ai

compound-bond
carb-glycosidic
prot-peptide
lipid-ester
nucleic acid-ester

glycerol+fatty acid(FA)=triglyceride
triglyceride+phosphoric acid=phosphatidic acid(PA)
 PA+cholin=phosphatidylcholin/lecithin
PA+ethanolamine=cephalin
PA+PA=cardiolipin
Palmitic acid+Serine=SPhingol
ceramide+choline=sphingomyelin
ceramide+glu=glucosylceramide
ceramide+gal=galactosylceramide
ceramide+glu+gal=globoside

in
PEP+N-acetyl mannosamine=N-acetyl neuraminic acid(NANA)
cer+glu+gal+NANA=ganglioside(GM3), smallest
cer+glu+gal+NANA+gal=GM2
cer+glu+gal+NANA+gal+gal=GM1

s.
C16:0-palmitic acid
C18:0-stearic acid
C18:1∆9-oleic acid
C18:2∆9,12-linoleic acid
iim
C18:3∆6,9,12-γlinolenic acid
C18:3∆9,12,15-linolenic acid
C20:4∆5,8,11,14-arachidonic acid
omega no.=total C–last double bond

eicosanoid(20C compound)
cyclic
4a
5mem-PG
6mem-oxane(thromboxane)
noncyclic
3double bond-leukotriene
4double bond-lipoxin

hemoprot
m

Hb,Mb,cytoch(C,P450),catalase,peroxidase,Τry pyrrolase,NO synthase

nonheme Fe containing prot
ferritin
Ai

ETC-inner mitoch memb

flow of electron fr low→high redox potential
–0.3→NADH→ FMN,FeS→ coQ→ b→ c1 →c→aa3→O2→+0.18

inhibitor&uncoupler
1)inh of ETC(CAR BAP CHAC)
I-NADH coQ oxidoreductase-Chlorpromazine, Aminobarbital, Rotenone(CAR)
II-succinateDH(no ATP prod)-malonate
 III-cytochrom reductase-BAL, Antimycin A, Phenformin(BAP)
IV-cytochrome oxidase(CHAC)-CN, H2S, Azide, CO
2)inh of prOtOn translOcation/fOf1/ATP synthase-OligOmycin
3)inh of nucleotIDE TRAnsporter-aTRActylosIDE
4)uncoupler-↓ATP synth, ↑ETC
natural-UCP/thermogenin, thyroxin
synth-2,4dinitrophenol, 2,4dinitrocresol, ChloroCarbonylCyanide
Phenylhydrazone(CCCP)

in
CN bind Fe+++ of cyt a3

enzyme
Internat Union Biochemistry(1964)
1st digit-class

s.
2nd digit-subclass
3rd digit-subsubclass
4th digit-individual enzyme
(OTHLIL)
Oxidoreductase
Transferase
Hydrolase-urease
Lyase(synthase)
Isomerase
iim
Ligase(syntheTase)-req ATP
↑10°C temp-↑rate by doubl till opt temp
4a
cofactor-enzyme
Cu(TDCL)-Tyrosinase, Dopamine βhydroxylase,Cytochrome oxidase, Lysyl oxidase
Mg-cholesterol synth, glutamyl cysteine synthetase, glutathione synthetase
(CTPARK)Carboxylase, Transketolase, Phosphatase, Adenyl cyclase, Ribonuclease,
Kinase
Mn-arginase, pyruvate carboxylase, isocitrateDH, superoxide dismutase, peptidase
m

Mb-sulphite oxidase, xanthine oxidase

Se-glutathione peroxidase
Zn-carbonic anhydrase, glutamateDH, LDH, alcoholDH, superoxide dismutase,
leucine aminopeptidase, retinine reductase,alk phosphatase, DNA polymerase, RNA
Ai

polymerase, d-ALA dehydratase

isoenzyme
multiple form of same enzyme, in single species, catalyze same chemical rxn
differ in struct, electrophoretic,immunolog, pH opt, Km, Vmax, AA seq, quart struct, ts
conc, physical propert
no. on basis of electroph mobility towards anode-LDH1-highest mobility
LDH1-heart(max),RBC
 LDH2(max)-heart,RBC
LDH3-brain,kidn
LDH4-liver,sk m
LDH5-sk m,liver
CPK1(BB)-Brain
CPK2(MB)-Heart
CPK3(MM)-sk m
SGPT-cytosol

in
SGOT-cytOsOl+ mitOchOndria(bOth)
Liver-ALT,muScle-AST
α2HEat labile ALP-HEpatitis
preβ ALP-bone ds

s.
oxygenase
dioxygenase(true oxygenase)-homogentisate oxidase, L-Try pyrrolase
Monooxygenase(Mixed fn oxidase)-cyt P450, biosynth steroid

zymogen(proenzyme)
pepsinogen
trypsinogen
chymotrypsinogen
proelastase
iim
procarboxypeptidase
proaminopeptidase
4a
fact II,VII,IX,X,XI,XII
plasminogen
angiotensinogen

PAGHADI
PyruvateDH complex
Acetyl coA carboxylase
m

Glycogen synthase
HMG coA reductase
-Active-Dephosphorylated form, Insulin dephosphorylat, maintain phosphorylase b in
inactive form
Ai

CGH-active-phosphorylated form, epinephrine, NE, glucagon phosphorylate

Citrate lyase
Glycogen phosphorylase
H sensitive lipase

acid phosphatase(PT)
pH=5-6
 Prostate-Tartarate sensitive
RBC-formaldehyde, cupric ion sensitive
band1-prostate
band2,4-granulocyte
band3-PLT, RBC, monocyte
band5-osteoclast, monocyte, Kupffer cell

suicide enzyme-cycloxygenase

in
fluorescence
release of longer wavelth on absorb short wavelth

organ—fed—fasting—starvation

s.
brain-glu-glu-ketone body
heart-FA-FA-ketone body
liver-glu-FA-AA
m,adipose ts-glu-FA-FA,ketone body
RBC-glu-glu iim
hypoglycemia→ ↓insulin→ ↑glucagon→ ↑epinephrine→ ↑cortisol,GH

high energy compound(≥7kcal/mol)

PEP(14.8)> carbamoyl P> 1,3BPG>creatine P(10.3)> ATP→ADP(7.3)> ATP→AMP
(7.7)> G1P> G6P> glycerol1P
4a
glycolysis/Embden Meyerhof pathway (cytosol)
glu→ (glucokinase/hexokinase+ATP+Mg)→ G6P+ADP→ (phosphohexose
isomerase+Mg)→ F6P→ (PFK1+ATP+Mg)→ F1,6BP+ADP→ (aldolaseA)→
DHAP,G3P→ (phosphotriose isomerase)→ G3P→ (G3PDH+iP+NAD)→
1,3BPG+NADH→ (phosphoglycerate kinase+ADP+Mg)→ 3PG+ATP→ 2PG→
(enolase+Mg)→ PEP→ (pyruvate kinase+ADP+Mg)→ pyruvate+ATP→
m

(LDH+NADH)→ lactate+NAD
irreversible rxn-hexokinase, PFK, pyruvate kinase
substrate level phosphorylation-phosphoglycerate kinase, pyruvate kinase
Brain,all ts-Hexokinase(BHeja)
↓Km(0.1mM),inh by G6P
Ai

liver,pancr-glucokinase
↑Km(10mM),not inh by G6P
ATP-inh,AMP-activator
1glycolysis=9–2=7ATP
RBC,cornea,lens=2ATP
RBC-hypoxia→↑release all glycolytic enz fr band3 RBC memb
 enzyme-inh
G3PDH-iodoacetate, arsenite
PFK1-ATP, citrate,H+
pyruvate kinase-ATP
phosphoglycerate kinase-arsenite
enzyme-activator
PFK1-F2,6BP(MI), ADP, AMP, iP
pyruvate kinase-F1,6BP

in
Pasteur effect-O2→ ↓glycolysis
Crabtree effect-glu→ ↓O2 consumption

Rapaport Leubering cycle

glu→→ 1,3BPG→ (2,3BPG mutase)→ 2,3 BPG→ (2,3BPG phosphatase)→ 3PG→→

s.
pyruvate
ATP=1

Cori cycle
iim
RBC,m(glu→ lactate)→ liver(lactate→ glu)→ RBC,m
any monosaccharide attached to P cant cross plasma memb
lactate→ Cori cycle, TCA cycle

glu-Ala cycle
m[pyruvate→ (ALT/SGPT)→ Ala]→ liver [Ala→ (ALT/SGPT)→ pyruvate→ G6P→ glu]
4a
gluconeogenesis(mitochondria+ cytosol)
substrate-lactate, pyruvate, AA(except Leu, Lys), propionate, glycerol
liver=90%(1kg/d), kidn=10%
mitoch[pyruvate→ (pyruvate carboxylase+ATP+CO2)→ OAA+ADP→
(malateDH+NADH)→ malate+NAD]→ cytosol[malate→ (malateDH+NAD)→
OAA+NADH→ (PEP carboxykinase+GTP)→ PEP+GDP+CO2→→ F1,6BP→
(F1,6BPase+H2O)→ F6P+iP→ G6P→ (G6Pase+H2O)→ glu+iP
m

AcoA deriv fr FA oxidase allosteric activat-pyruvate carboxylase

↑-after 72h starvation
ts mainly dependent on glu-brain, RBC, testes, kidn medulla
fasting>24h-gluconeogenesis
Ai

G6Pase present-liver,kidn, absent-m,brain,adipose ts

glycerol→ (glycerol kinase+ATP)→ glycerol3P+ADP→ (glycerol3PDH+NAD)→
DHAP+NADH
glycerol kinase present-liver,kidn ,absent-adipose ts
odd chain FA→ propionic acid→ methyl malonylcoA→ (methylmalonylcoA mutase+
5deoxyadenosyl cobalamin)→ succinylcoA
enz comm to glycolys& gluconeogenesis-fru2,6bisphosphatase
 TCA/citric acid/Krebs cycle(mitochondr matrix)
pyruvate→ (PDH+NAD+coA)→ AcoA+NADH+CO2→ (citrate synthase+OAA)→
citrate→ (aconitase)→ cisaconitate+H2O→ (aconitase+H2O)→ isocitrate→
(isocitrateDH+NAD)→ αKG+NADH+CO2→ (αKGDH+NAD+coA)→
ScoA+NADH+CO2→ (succinate thiokinase+GDP)→ succinate +GTP+coA→
(succinateDH+FAD)→ fumarate+FADH→ (fumarase+H2O)→ malate→
(malateDH+NAD)→ OAA+NADH
3NADH+1FADH+1GTP

in
1TCA cycle=10ATP, total=12.5ATP
1glu(ATP)=7+12.5×2=32(net), 34(total)
OAA remain constant, play catalytic role

s.
pyruvate dehydrogenase(3enzyme)
5coenzyme(TLCFN)
TPP,Lipoic acid,CoA,FAD,NAD

AA→ TCA cycle

Tyr,Phe→fumarate
Try→Ala→pyruvate
iim
His,Pro,glutamine,Arg→ Glu→ αKG
Iso,Met,Val,propionate→ succinyl coA

OHPro,Ser,cysteine,Thr,Gly→ pyruvate

enzyme-inh
4a
aconitase-fluoroacetate(noncomp)
AlpKGDH-Arsenite(noncomp), hyperAmmonemia, succinylcoA, NADH
succinateDH-malonate(compet)
enolase-fluoride
citrate synthase-ATP, NADH, AcoA, succinylcoA
isocitrateDH-ATP, NADH
enzyme-activator
m

isocitrateDH-ADP

HMP/hexose monoP/pentose P/Dicken Horecker/shunt/phosphogluconate oxidative

pathway(cytosol-liver, adipose ts, adrenal gld, RBC, testis, lactating breast)
glu→ G6P→ (G6PD+NADP)→→ ribose5 P(5C)→ (transaldolase,transketolase-3C)→
Ai

xylulose5P(5C),seduheptulose(7C),erythrose(4C)→ glu
2transketolat, 1transaldolat rxn
90%glu→ glycolysis, 10%glu→ HMP path
liver,RBC-30%glu utilizat

fructose metab
fru→(fructokinase)→F1P→(aldolaseB) →DHAP,glyceraldehyd→ (triose kinase)
 → G3P→→pyruvate
fructokinase-liver,kidn,intest

galactose metab
gal→ (galactokinase)→ gal1P→ (gal1P uridyl transferase)→ UDPgal→ UDPglu→
glycogen

glycogen synthesis

in
UDPglu+glycogen/glycogenin→ (glycogen synthase)→ linear glycogen→ (branching
enzyme/1→4,1→6 transglycosylase)→ glycogen

glycogenolysis
glycogen→ (glycogen phosphorylase)→ smaller glycogen+G1P→ (debranching

s.
enz/1→ 4,1→4,7 glucan transferase)→ (1,6glucosidase)→ glu

lipid metab
FA→TG-esterificat
TG→FA-lipolysis
FA→AcoA-βoxidat
iim
AcoA→ FA-FA synthes/lipogenesis

even chain FA is never converted to glu

βoxidation FA(mitoch matrix)

4a
FA→ (thiokinase/AcoA synthetase+ATP)→ acylcoA+AMP→ [carnitine
acyltransferase I(outer surf inner mitoch memb)]→ carrier prot→ [carnitine
acyltransferase II(inner surf inner mitoch memb)]
FA+coA+ATP→ FAcoA+AMP
16CFA(palmitic acid)-7cycle=4×7=28+8AcoA=8×10=80, net ATP=28+80–2=106 ATP
18CFA(stearic acid)-8×4+9×10–2=120ATP
for unsaturated FA-substract 2ATP for each double bond
m

oleic acid=118ATP
linoleic acid=116ATP
linolenic acid=114ATP
arachidonic acid=126ATP
peroxisome βoxidatiom-long chain FA→ 8CFA(octanoyl coA)
Ai

αoxid-br chain FA(phytanic acid)

organ not use FA for energy-brain, RBC, adren medulla
enzyme-inh
carnitine acyltransferase I-malonyl coA
odd chainFA→ propionic acid+acetic acid

lipogenesis
 1AcoA+7malonylcoA+14NADPH= palmitic acid(16C)+7H2O+7CO2+14NADP
allosteric inh of AcoA-palmitic acid
allosteric activator of AcoA-citric acid
malonyl acyl transferase-2enz activity
sat FA(≤16C) assemble in-cytoplasm

esterification
glycerol→ (glycerol kinase,abs in adipose ts)+ DHAP(adipose ts)→ TG

in
lipolysis
TG→ (lipoprot lipase-bld, HS lipoprot lipase-adipose ts)→ glycerol+3FA

cholesterol(27C)

s.
esterif(linoleic acid, palmitic acid, stearic acid)=70%, nonesterif=30%
synth
AcoA+AcoA→ acetoacetyl coA→ (HMG coA synthase)+AcoA→ HMGcoA(6C)→ (
HMGcoA reductase)→ mevalonate(6C)→ isoprenoid(5C)×3→ farnosyl(15C)×2→
iim
squalene(30C)→ lanosterol→→ 19enz→ cholesterol

ketone body synth(liver,mitochondria)

AcoA+AcoA→ acetoacetyl coA→ (HMG coA synthas)+AcoA→ HMGcoA→
(lyase)→acetoacetate+AcoA→ βOH butyrate(MC),acetone
prim ketone body-acetoacetate
sec ketone body-βOHbutyrate,acetone
4a
AA metab
AA→ KA
glutamate→ αKG
Ala→(SGPT/ALT)→pyruvate
Asp→ (SGOT/AST)→OAA
m

inborn error in AA metab-urine odour

glutaric acidemia, iSovaleric acidemia-Sweaty feet, acrid
haWkINSuria-SWimmINg pool
MSUD-maple syrup
Ai

Met malabsorption-cabbage
multiple carboxylase def-tomcat urine
PKU-mousy/musty
trimethylaminuria-rotting fish
tyrosinemia-rancid butter, fishy, boiled cabbage

urea cycle
CO2+NH3→ (carbamoyl P synthase1)→ carbamoyl P→ citrullin→ cytoplasm→
 (arginosuccinate synthase)→ arginosuccinate→ (arginosuccinate lyase)→ Arg→
(arginase,hydrolysis)→ ornithine&urea→ citrullin
most powerful activator of carbamoyl P synthetase I is N-acetyl
glutamate(NAG)-activat by Arg
2 NH2 grp in urea derive fr-Asp+NH3
NH3>urea tpt by-Glu
N2 carried fr m →liver,kidn-Ala
urea cycle→TCA cycle-fumarate

in
bilirubin metab
heme→ (microsome)→ bilirubin
hemoprot,senescent RBC→ monocyte(liver,spleen,bone marrow)→ (heme
oxygenase)→ biliverdin→ (biliverdin reductase)→ bind to albumin→ hepatocyte→

s.
bind to ligandin→ [UDP glucuronyl transferase(UGT1A1)]→ conjugate with
glucuronic acid→ conjugat bilirubin→ bile→ 20% reabsorb in ileum&colon, rest excret
in feces(stercobilinogen)& urine(urobilinogen)

iim
pathway-rate limiting enzyme
ACh synth-choline uptake
bile acid synth-7α hydroxylase
catecholamine synth-Tyr hydroxylase
cholesterol synth-HMGcoA reductase
FA oxidation-carnitine Acyl transferase1
FA synth-AcoA carboxylase
4a
gluconeogenesis-pyruvate carboxylase >fru1,6bispho>PEP carboxylase
glycogenesis-glycogen synthase
glycogenolysis-glycog phosphorylase
glycolysis-phosphofructokinase1
heme synth-Liver-δamino Levulinate synthase, erythroid cell-uroporphyrinogen
synthase, ferrochelatase
HMP shunt-G6PD
m

ketone body synth-HMGcoA synthase

Krebs cycle-isocitrateDH
porphyrin synth-ALA synthetase
purine biosynth-PRPP synthetase
Ai

pyrim synth-carbamoyl P synthase II

urea synth-carbamoyl P synthase I
uric acid synth-xanthine oxidase
vitD synth-1α hydroxylase(kidn)

cytosol
glycolysis
HMP shunt
 transamination
glycogenolysis
glycogen synthesis
FA synthesis
prot synthesis
gluconeogenesis(part)
pyramidine synthesis(part)
heme synthesis(part)

in
urea synthesis(part)
mitochondria
TCA cycle
ETC
βoxidation FA

s.
ATP synthesis
ketone body synthesis
pyramidine synthesis(part)
urea synthesis(part)
heme synthesis(part)
gluconeogenesis(part)
nucleus
DNA replication
transcription
iim
ER
drug metabolism
4a
ethanol oxidation
heme→bilirubin
FA chain elongation
protein synthesis(part)
glycoprotein synthesis(part)
lipoprotein synthesis(part)
cholesterol synthesis(part)
m

golgi body/dictyosome
maturation of synthesised protein
glycosylat
lysosome
Ai

protein degradation
carbohydrate degradation
lipid degradation
nucleotide degradation
peroxisome
αoxidation long chain FA
ribosome
cytosolic/free/polyribosome
 cytosolic prot(Hb)
cytoskeletal prot
mitochondr prot
nuclear prot
peroxisomal prot
bound/rough ER polyribosome
mitochondr memb
ER memb

in
golgi memb
plasma memb
secretory prot
lysosomal enzyme

s.
organelle-marker
cytosoL-LDH
endoplasmic reticulum-G6Pase
Golgi apparatus-Galactosyl transferase

nucleus-DNA
iim
lysosome-acid phosphatase
mitochondria-glutaMATeDH(MATrix), cytochroME oxidase(MEmb)

peroxisome-catalase, uric acid oxidase

pl memb-Na+-K+ ATPase, 5'-nucleotidase, adenyl cyclase
Ribosome-RNA
4a
glycogen storage ds
(VPCAMHaiTu-GADiBhiMeriHaiPar)
I-VonGierke-Glucose6phosphatase
II-Pompe-Acid maltase/Alp 1-4 glucosidase
III-Cori-Debranching enz
IV-Anderson-Branching enz
V-McArdle-Myophosphorylase
m

VI-Hers-Hepatic phosphorylase
VII-Tauri-Phosphofructokinase
VIII-—-Phosphorylase kinase
m-II,V,VII,fatal-II,IV
Ai

exercise intolerance,2nd wind phenom-V

lipid storage disorder

(TumSabNahiGayeKyaFirFaridabad-HaHarSaalGaavGaavGaavCiye)
Tay Sach-βHexosaminidaseA
Sandoff-βHexosaminidase A+B
Neiman Pick-Sphingomyelinase
Gaucher-βGlucosidase
 Krabbe(GM1 gangliosidase)-βGalactosidase
Fabry-αGalactosidase
Farber-Ceramidase
MR-NGKF,ren ds-Fabry

Phe-Tyr metab(PTNAT-HTHOH)
Phenylketonuria(hyperphe I)-Phe OHlase
Tyrosinemia II(Richer Hanhart synd)-Tyr OHlase

in
Neonatal tyrosinemia-Hydroxyphenyl pyruvate OHlase
Alkaptonuria-homogentisate Oxidase
Tyrosinemia I(tyrosinosis,hepatorenal synd)-fumaryl acetoacetyl Hydrolase
atypic phenylketonuria(hyperphe II,III)-dihydrobiopterin reductase
hyperphe IV,V-dihydrobiopterin synth

s.
porphyria-enzyme def(ACPEHaiVaha)
A/c intermittent-uroporphyrinogen1 synthase
Cong erythropoeitic(Gunther ds)-uroporphyrinogen3 cosynthase
iim
Porphyri cutan tarda-uroporphyrinogen decarboxylase
Erythropoeitic/Proto-ferrochelatase
Heredit copro-coproporphyrinogen oxidase
Variegate-protoporphyrinogen oxidase

urea cycle(AACHH-AAAOC)
Argininuria-Arginase
4a
Arginosuccinaturia-Arginosuccinate lyase
Citrullinemia-Arginosuccinat synthetase
HyperAmMOnemia I-Ornithine transcarbAMOylase
Hyperammonemia II-CarbamoylP synthetase-I

mucopolysaccharidoses/lysosomal storage ds
I-HurLer synd-aLp L iduronidase
m

II-Hunter synd-iduronate sulfatase

III-SanFilipp synd-heparan SulFamidas
VI-MaroteauxLamysynd-arylsulfataseB
VII-Sly synd-βglucuronidase
Ai

IX-Natowicz synd-hyaluronidase

ds-enzyme def
albinism-tyrosinase
amyotrophic lat Sclerosis-Superoxide dismutase
BruTTon agammaglobulinem-Tyr kinase
Canavan ds-aspartoaCylase
c/c granulomatous ds-NADPH oxidase
 Criggle Najja-UDPglucuronyl transferase
cystathionuria-cystathionine lyase
essential pentosuria-xylitolDH
fructosuria(nonfatal)-fructokinase B
galactossemia1/gal intolerance(fatal)-gal1P uridyl transferase
gyrate atrophy of retINA-ornithine d transamINAse
heredit angioneurotic edema-C1 esterase
heredit fru intoler(fatAL)-ALdolase B

in
HHH synd-ornithine permease
histidinemia-His NH3 lyase
homoCYSTinuri-CYSTathione synthetase
hyperlipoproteinemia I-lipoprot lipase
I cell ds-N acetyl glucosamine1P transferase

s.
Lesch Nyhan synd-HGPRT
maple syrup urine ds-αketoacid decarboxylase
Menkes ds(YYYY)-lYsYl hYdroxYlase
metAchromatic leukodystrophy-arylsulfatase A
iim
mucolipidosis1(sialidosis)-sialidase/neuraminidase
osteopetrosis-carbonic anhydrase II
recur Mburia-carnitine palmitoyl transferase II
Refsum ds-phytanic acid αoxidase
SCID-adenosine deaminase
sudden infant death synd-med chain acyl coADH
TTP-ADAMTSB(vWFmetalloproteinase)
4a
Werner synd-DNA helicase
WoLman ds-LysosomaL acid Lipase
xanthinuria-xanthine oxidase
Xeroderm pigmentosa-DNA eXonuclease

enzyme replacement therapy

Gaucher ds(alglucerase/ceredase)
m

Hurler synd
Hunter synd
Maroteaux Lamy synd
Fabry ds
Ai

Pompe ds

lipid
chylomicron(B48,origin)> VLDL(B100,preβ)> LDL(B100,E,β)> HDL(A1,A11,α)→
(DLT)Diameter,Lipid,Triglyceride
C<V<L<H→ (DPP)Density,Protein,Phospholipid
L>H>V>C→ cholesterol
endogenous/sr TG-VLDL
 RNA editing
total cholesterol:HDL<3.5-prevent CAD

↑intracellul cholesterol
↓HMGcoA synthase, HMGcoA reductase
↓LDL recept
↑ACAT, cholesterol esterificat
LDL recept present on Liver& extrahep ts, present on cytosolic side(clathrin coated)

in
LCAT-esterificat of cholesterol
apoA1-activate LCAT
apoC1,2-activate lipoprotein lipase
apoA2,C3-inh lipoprot lipase
apoE-apoprot of cholesterol

s.
macrophage have affini for oxidise LDL
fatty liver-↑TG
Cholesteryl Ester Transfer Prot(CETP)-transport prot fr HDL→ VLDL,chylomicron

hyperlipoproteinemia(CLLIVV) iim
1-C-familial lipoprotein lipase def
2a(familial hyperβlipoproteinemia, hypercholesterolemia)-L-LDL recept defect
2b(familial combined hyperlipoproteinema)-L+V-↑apoB, ↓LDL recept
3(broad β ds/familial dysβlipoproteinemia/remnant removal ds)-I-apoE def
4(familial hypertriglyceridemia)-V-↑endogenous TG-apo V def
5(endogenous hypertriglyceridemia)-V+C-severe apoV def
4a
hypolipoproteinemia
familial hypoβlipoproteinemia-↓apoB
familial αlipoproteinemia(Tangier ds)-sr HDL absent

test for carbohydrate

MolIsh-Identify carb
m

BarfoeD-Differ b/n mono&disaccharide

Benedict-identify monosaccharide
Benzidine-pentose
SelivanoFF-identify Fru
Ai

Rothera-ketone body
Bials-pentose
Ehrlich-bilirubin in urine
Fouchet-bile pigment
Hay Sulpher-bile Salt

rxn given by cholesterol

 Salkowski
Liebermann Burchard
Zak
Zimmerman

meth for prot struct

named after Person/reagent-Primary(trans)-mass spectrometry(MALDI-Matrix
Associated Laser Desorption Ionisation, H+ ion)

in
named after tEChnology-sECondary(Pauling& Corey-no. of AA per helix=3.6,
αhelix>βpleated)& tertiary(MI bond-hydrophobic, max no.-van der Waal)
struct by default-tertiary-Xray crystallography, NMR
separation technique-quarternary(Hb, Ig, immune complex, myosin)-PAGE
electrophoresis, HPLC chromatography, centrifugation, isoelectric focussing

s.
total prot estimation-Biuret assay, Lowry assay, Bradford assay

prot denaturing agent

physical-heat, violent shaking, Xray, UV
iim
chemical-acid, alkali, organic solvent(ether, alcohol, acetone), salt of heavy
metal(Pb,Hg), urea, salicylate, guanidine

Beer law-↑amount transmit light-↓conc of absorbing material

Lambert law-↑amount transmit light-↓ thickness of absorb material

strength of bond(CDEHaiVaha)
4a
Covalent> Disulfide> Electrostatic> H2> vdW

def vitamin—enzyme/substrate marker

B1-RBC transketolase
B2-RBC glutathione peroxidase
B3-urine N methyl nicotinamide
B6-urine xanthurenic acid
m

B9-urine FIGLU
B12-urine methylmalonic acid

vitA
Ai

follicular hyperkeratosis
def in famine
metaplasia
vitD
7deOHcholesterol→ (UV light,skin)→ cholecalciferol(calciol)→ (25OHlase,liver)→
25OHcholecalciferol(calcidiol)→ (1αOHlase,kidn)→ 1,25OHcholecalciferol(calcitriol)
synth by-keratinocyte
daily req=400-600IU
 measurem in sr-vitD2(25OHvitD)
vitE
prevent chain rxn in lipid peroxidation(chain breaking aqueous antioxidant), cant
prevent CAD
vitK
K1(phytonadione,phylloquinone)-plant
K2(menaquinone)-bact
K3(menadione)-synth

in
carboxyl of γGlu in fact II,VII,IX,X,protC,S
vitC
posttranslation modificat(OHlation of Pro&Lys→ OHPro&OHLys) collagen
NE synth[dopamine→ (dopamine βmonoxygenase/hydroxylase)→ NE]
carnitine synth

s.
bile acid synth(7α hydroxylase)
Fe absorpt(Fe+++→Fe++)
adrenal steroid synth
Tyr metab(para OHphenylpyruvate→ homogentisate)
vitB9 metab(vitB9→ THF)

vitB1(thiamine)
iim
cant be synth in human d/t def of-L gulonolactone oxidase

thiamine pyrophosphate-PDH, αKGDH, transketolase

vitB2(riboflavin)
FAD-succinateDH(compl II), FMN-NADH DH(compl I), photophobia, blurred vision,
burning, itching eye, corneal vascularisation, petechiae, poor growth
4a
vitB3(niacin)
NAD,NADP-G6PD
vitB5(pantothenic acid)
coA(adenylic acid+ pantothenic acid+ βmercaptoethanolamine)
(thioethanolamine)-carrier of acyl grp
burning feet synd
vitB6(pyridoxine)
m

pyridoxal P(carrier of NH2grp) req by all transaminase& some decarboxylase,

cystathione lyase(synthase), glycogen phosphorylase
vitB7(biotin)
carboxylat of pyruvat(3C), propionyl coA (3C), acetyl coA(2C)
Ai

vitB9(folic/pteroylglutamic acid)
folic acid→ F reductase→ THF(1C carrier)
vitB12(cyanocobalamine)(HaM)
counteract action of phenobarbitone
homocysteine+N5methylTHF→ (homocysteine methyl transferase/methionine
synthase+methylcobalamine)→ methionine+THF
γGlu carboxypeptidase-↑vitB9 absorpt
 enzyme elevated in CSF
adenosine deaminase-TB
creatine kinase-hydrocephalus, infarction, tm, SAH, trauma
LDH-ICH, bact meningitis
lysozyme-bact meningitis, TB meningitis, cerebral atrophy, tm, multiple sclerosis,
ICH, epilepsy

organ dep on insulin for glu(BASH)

in
Breast
Adipose ts
Skeletal m
Heart
not dep(BRAKLIPP)

s.
Brain
RBC
Adrenal
Kidney
Liver
Intestine
Pancreas
Placenta
iim
bile acid
½of body cholesterol metab→ bile acid
4a
prim-cholic acid, chenodeoxycholic acid
conjugate-glycocholic acid, taurocholic acid
sec-deoxycholic acid, lithocholic acid
intest bact-prim BA→ sec BA by deconjugate& 7α dehydroxylation
7αhydroxylase
activator-cholesterol, thy h
inhibitor-bile acid
m

source of energy for m activity

immediat-1-2s-ATP, 5-7s-creatine P
short burst(100m sprint, wt lifting)-ATP, creatine P, anaerobic process
Ai

long durat(200m sprint)-glycogen anaerobic metab

longer durat(marathon, jogging)-aerobic metab, FA

starvation
initial stage(2-3d)-liver glycogen(18h), gluconeogenesis(m prot breakdown→ Ala,
Glu), ketone body, FA
intermediate stage(24d)-FA, ketone body
advanced stage(>24d)-breakdown ts prot
 HarTnup ds
defecT inTransport across Tubule of Tryptophan& neuTral AA
pellagra, neurologic sympt, aminoaciduria

cystinosis-lysosomal defect

br chain AA(Val,Leu,Iso) are maj N2source for Glu&Ala synth

in
Arg+Gly→ (kidn)→ guanidoacetate+ SAM(liver)→ SAH+creatine→ creatineP→ (m)→
creatinine

Asp+glutamine+ATP→ asparagine-glutamic acid+AMP

s.
AA derivative
phenylalanine→ tyrosine→ dopa
→dopamine→ melanin

tryptophan
iim
→norepinephrine→ epinephrine
→thyroxine

→kynerunine→ xanthurinate
niacin
serotonin
melatonin
4a
5-HIAA
histidine
histamine(histidine decarboxylase)
ergothionine
carnosine
anserine
glycine
m

porphyrin→ heme(succinic acid)

purine
creatine(GAM)(Gly+Arg+Met)
glutathione(Gly+Cys+Glu)-Cys-reduc propert, transport of AA in intest& kidn tubule
Ai

via γglutamyl(Meister) cycle, detoxification

glycocholic acid
hippuric acid
arginine
urea
creatine
NO
ornithine
 →(ornithin decarboxylase)→ putrescine
→spermine
→spermidine
methionine(no SH grp, cant form disulphide bond)
choline
spermine
spermidine
βalanine

in
cysteine
coA
carnosine
carnitine(Lys+Met)
cysteine(SH grp)

s.
coA
taurine(present in human milk→ brain developm)
glutamine
GABA
homocysteine
alkaptonuria
thrombosis,CAD,stroke
osteoporosis,#
neuropsych manifestat
iim
developm delay
visual disturbance
4a
microalbuminuria
lysine
carnitine(βOH γCH3 aminobutyrate)
selenocysteine
glutathione peroxidase(antioxidant)
deiodinase(convert T4→T3)
thioredoxin reductase
m

Gly reductase
formateDH

common interm in synth of Arg, Ser& Asp

Ai

glyceraldehyde3P

in chromatography, nonpolar AA faster than polar AA

most nonpolar(ILVA)-Isol> Leu> Val> Ala
in reverse chromatography& electrophoresis polar faster than nonpolar

AMINO ACID(Lα)
nature AA>300, body>50, protein=20
 essential(AVHILLMPTT)
Arginine(semi)
Valine
Histidine(semi)
Isoleucine
Leucine
Lysine
Methionine

in
Phenylalanine
Tyrosine
Tryptophan
ketogenic(LL)
Leucine

s.
Lysine
mixed(PITT)
Phenylalanine
Isoleucine
Tyrosine
Tryptophan(largest)
iim
polar(all OH,acidic,basic)
acidic/–ve/anionic
glutamic acid(oxidat deaminat)
aspartic acid
basic/+ve/cationic(HisbasicAreLoose)
4a
Histidine(Heterocyclic, most stable at physiolog pH, extra NH2 grp)
ArGinine(most polar d/t Guanido grp)
Lysine
imino acid
proline(=NH, amino side chain)
aliphatic(GAVLI)
Glycine(smallest, simplest, flexibil prot, optic inactive, detoxif benzoic acid)
m

Alanine
Valine
Leucine
Isoleucine
Ai

aromat(TryToPushHer)(absorb-280nm)
Tryptophan
Tyrosine
Phenylalanine
Histidine
S containing
cysteine
methionine
 hydroxyl AA(SleeperThreeTier)(can be phosphorylated by prot kinase)
Serine(d glycoSylation)
Threonine
Tyrosine
AA forming succinyl coA(MVIT)
Methionine
Valine
Isoleucine

in
Threonine
AA forming αKG(PHArG)
Proline
Histidine
Arginine

s.
Glutamine
nonpolar(AVLI Met PPT)
Alanine
Valine
Leucine
Isoleucine
Methionine
Proline
Phenylalanine
iim
Tyrosine
heterocyclic
4a
Proline
Glycine
cystinuria(COAL)
Cysteine
Ornithine
Arginine
Lysine
m

Selenocysteine(21StAA-UGA)(GAS)
pyrolysine(22ndAA-UAG)

Abbreviations
a-artery, AA-amino acid, abtc-antibiotic, AI-autoimmune
Ai

bef-before, bel-below, b/l-bilateral, bld-blood, b/n-between, bn-benign, br-branch,

Bx-biopsy
ca-carcinoma, carb-carbohydrate, c/i-contraindication, c/l-contralateral,
conc-concentration, cong-congenital, Cx-cervix
d-day, def-deficient, ds-disease, d/t-due to, Dx-diagnosis
E-estrogen
fem-female, fr-from
gld-gland, glu-glucose
h-hormone
 idiop-idiopathic, i/l-ipsilateral, inf-infection, inj-injury
lig-ligament, LL-lower limb, l/t-leading to
m-muscle, maj-major, mal-male, MC-most common, met-metastasis, min-minor,
mtx-methotrexate, Mx-management
n-nerve, norm-normal
P-progesterone, pl-plasma, prot-protein, pt-patient
Rx-treatment
SCC-squamous cell carcinoma, sr-serum, Sx-surgery, sz-seizure
tm-tumour, ts-tissue

in
UL-upper limb, u/l-unilateral
vag-vagina, VC-vocal cord, vel-velocity, vert-vertebra, vit-vitamin, vol-volume
w-week, wt-weight
Xr-X ray
y-year
#-fracture

s.
°-degree

THESE NOTES ARE ONLY FOR THE PURPOSE OF GUIDANCE AND HELP TO PG
ASPIRANTS, NOT FOR COMMERCIAL OR OTHER PURPOSE. REFERENCE HAS
BEEN TAKEN FROM VARIOUS STANDARD TEXTBOOKS.
iim
4a
m
Ai