BIOCHEMISTIY

20th NOTEBOOK

By -
&Shivansh-studies

-
Couch
Directly Proportional
:

EnzymesSest ② Enzyme # CARBOHYDRATES

of Rate
(Benedicts + ve)
Reaction
to
Velocity of .
Common Monosacchrides

Exception Ribosomes :
(RNA that acts
as Straight line
.

Catalyst
-otojactors

=
Enzymes Reg Specific lofactors
Carbonic Anhydrase ; Alp Carboxy Peptidase & Temperature : Bell Shaped Curve

Zincresium
,

Rate
Kinase , Phosphatas , Enolase
if Temp > 40. sharp fall in

Copper Tyrosinease, Xanthine Oxidase

Reaction.
Xanthine Oxidase , Sulfite Onidase
. of
Molybdenum
Iro Heme : Cytochromes , nitric ouide synthase ④ pH of Medium : Bell shaped Curve
Non Heme : Succinate Dehydrogenase .

Enzymes are divided into > classes :

(Thula
For A Reason) Optimum pH : 5-9 (Normal)
-
# Spel Chrachterstictys of GAG :

Class] : ORIDO-REDUCTASE
① Kevatan Sulphate
-
Subclass : Dehydrogenase Peroxidase
Oxidase Catalase
Corneal Transparency
Oxygenase Reductase ② Hyaluronic Acid

TRANSFERASE Cell & Wound

I
Class
:
migration Repair
En :
Kinase/Any Enzyme with "Trans'
Compressibility of Cartilage .

I
Class : HYDROLASE * Suicide Inhibition ③ Chondroitin Sulphate
-

(Ex Digestive Enzymes Phosphatase

:
, Ex : Allopurinoly inhibits Most Abundant GAS
IV : LYASE Lyase named Enzyme Xanthine Ouidase
Class Ex
Compressibility of Cartilage
: .

ClassE : ISOMERASE EX : Isomerase in name . ·

Aspirin Inhibits Cyclooxygenase ④ Heparan Julphate
Racemase , Mutase
.

Mem)
-

ClassE :
LIGASE Ex : Synthetase , Carbonylase .
·

Difluro methyl ornithine inhibity Ornithine Decarbonylase .

L Acts as
Receptor (f in Plasman
-

It Channel
⑤ (Anticoagulant)
+ .
Pass I : TRANSLOCASE Ex : H Pump , Heparin
-

* Enzymes lowers activation

.
energy
* Properties of fosteric Enzymes :
⑥ Dermatan Sulphate
Enzymes do not alter 190 (free energy changes Maintains Str
of Scleva
*
① Multi subunit Enzyme .

* Theories
of Mechanism
of Action of Enzymes ① : Rate
Limmiting Enzymes

① Emil Fishery G David Koshland's

Theory Theory
. ③ Substrate Saturation Curve #
Mucopolysaccharidoses
sigmoid .

① Defect in
GAG degradation .

Follows Sigmoid Kinetics d/t

MpS (lysosomal Storage dis
)
.

Cooperative binding
. ② All MPS are Autosomal Recessive

Concrete map meet dir ,

-

# Factory
affecting Enzyme Activity
-

A in Sub
① Substrate Concentration
: -

Then No further & in Rate

of Rx & ->
High
Insulin to Gluragon Ratio

km : Michaelis Constant
. >
- Enzymes in dephosphyralated state .
* HURLER's Disease (MPSIH)
Affinity towards Substrate * In
Fasting State XL-iduronidase defect .

High km means lower

Affinity >
- Insulin :
Glucagon Ratio is low
* Scrald's Disease (MOSIS)
state
Mentor phosphorylated 21-iduronidase

Michaelis =mane Engymes

:
are in
Same as above :

defect

&
* HUNTER'S Disease (MPSI) * All MPS have : Course Facial Features, Short Stature , Dysostosix Multiplex .

L-iduronate Sulfatase Hurler's Disease Scheie' Disease Hunteri Disease Sanfilippo

Disease Maroteaux

* SANFILIPPO DisEASE (MOS III) MPS 1 - M MPS IS MPS I MPS III Lamy MPSII

IS
DEGRADATION.
Mental Deficiency Corneal Clouding Mental Deficiency Mental Deficiency Correal

* MORQuO Disease (MPS IV) Correal

Clouding Viscromegaly Viscromegaly Leucocyte inclusion Clouding
GALACTOSAMINE6 SULOHATASE Visceromegaly Leucocyte inclusions Leucocyte inclusion
Morquio Disease Visceromegaly
* MAROTEAUX LAMY DISEASE (MPSI) Cencocyte inclusion MPS IV
Larocyte inclusion

N-Acesyc Galactosamine Sulfatase . (Reilly Body Only cornea

* I Cell Disease (it affects GAG Degradation] ⑪

Clouding
4 N-Acety/ Glucosamine Phosphotransferase .
↑

Glucose Transporters
:
#

> ↓ Renal
Threshold
Mutated SPLT2-
Renal Glycosuria
the Benedicty Test .

*
During well Ged
state >
- Insulin :
Glucagon ratio is
High

which causes increased GlUT4 in Heart Muscles , Adipose

Hissul

& which leads to ↑ Glycolysis ,

4
Glycogen Syn ,
4 F .
A .

Syn.
Ratio
* Body in
Fasting State
: Low insulin :
Glucagon

Pathways Act :
Glycogenolysis Gluconeogenesis.
,

# Pyruvate Dehydrogenase
:

Site : Mitochondria

3 enzymes : E,
Pyruvate Dehydrogenase
E2 Dihydrolipoy/ transacetylase
Es Dihydrolipomide dehydrogenase
.

insulin
# GLYCOLYSID/EMP PATHWAY :
Enzyme induced by
:
Glucokinase * Clinical
Significance
:

level I
Substrates
* * Enzymes Enzyme that regulates glacse LeighSyndrome
Glucose Hexokinase/Glucokinase (irreversible) Rate
limiting Step of Glycolysis
: PFK-I Metabolic Defect (PDU comple)

Phosphohexokinase (Reversible) Substrate level Phosphorylation 4 E, Mc

affected
Glucose 6 Phosphate
:

& Pyruvate Kinase & 1 3

BP glyurate Kinase ↓
Fructose 6 Phosphate Phospho-Fructokinase I ,

No production of Acetyl CoA

Fructose 1 6
,
Bisphosphate Aldolass
↓
Phosphotrios isomerase (Reversible) pyruvate
Increased
Dihydroxy Acetonephosphate
↓
Elyseraldehyde 3 Phosphate Gly 3 Poy Dehydrogenase (Reversible narcobic- 4 ATPproduced I consumed
Converts to Lactate

Bisphosphoglycerate 3 B04 Kinase (Only reversible Kinase) Arcobia-9ATP produced I consumed

↓
1 3 1,
,

S
3 Phosphoglycerate 3 phosphoglycerate Mutase in Arrobic Cond" /molGlu
= 7 ATP Lautic Acidosis .

5 = 5 ATP
32 ATP
2 Phospho glycerate Enolase .
2 Pyruvate = 2 NADH = [x 2 ·
-
-

Phosphoenol Pyruvate Pyruvate Kinase .

(Irreversible) (TCA cycle = 2x10ATP = 20 ATP
Glycogen Metabolism Takep place in
Cytopla
# HMP
Pathway
:
# : >
-

source of blood glucose during fasting

: Liver Pentose Phosphate Pathway) Dicken Horecker Pathway .

Energy During Exercise : Skeletal Muscle Calls Rate

limiting Step :
Glucose 6 Phosphate Dehydrogenase
.

Glycogen Linkage : Linear >

- 21 , 4 Glycosidia linkage HMP phase 1 : Oxidative ,
Irreversible , NADPH
generation ,
RLE :
GGPD.

Branching - x1, 6 linkage

.
HMP phase 2 : Non-oxidative , Reversible ,
Pentose Generation .

Insulin Func" of NADPH

Factory favouring glycogen Syn
:
* 96/D
:
Deficiency :
Epinephrine & Cholestrol
favouring glycogenolysis Glucagon ① M/
& Reductive biosyn of F A
Factory Enzyme Deficiency
: .
.
+

# Glycogen Storage Disorders : ⑦ Free Radical

scavenging >
-
Deficiency of NADPH

③ Respiratory Burst >

- DIt Fava beaut , Sulja Drugs .

④ Nitric Oxide Synthase >

-
CIF Hemolysis (Jaundice + Anemia
:

⑤ Let Paso Methemoglobinemia .

Mitochondria
# Gluconeogenesis :
Cytoplasm +

Pyruvate Carbonylase PSP

Carboxy Kinase Fructose 1,6 Bisphosphate
Chey enzymes
:
, ,

Glucose
-
6 phosphate
.

In Gluconeogenesis : Non Carb Substrates are converted to

glucose

>
- Lactate :
Glucose lactate Cycle [CORI's CYCLE]
>
-
Glucose Alanine Cycle [Cahill Cycle]
CoA
>
-
Glycerol ,
Propionyl .

Acetyl CA is an Allosteric Activator

of Pyruvate Carbonylase
.

* Transport of Oxaloacetate from Mitochondria to

Cytoplasm : Malate Aspartate
Shuttle
.
-
-

# Galactose Metabolism :

-
Metabolised in Liver
. (Liver Function Test is used
for Galactose intolerance)
in Fructose Metabolism Phosphofructokinase is not involved
.

I 0
Liver
GSD :
Type ,
III
,
VI
,

Muscle GSD Type V, VI, 0 11

:
,

State Insulin activates phosphatase Activating

>
-
* In Jed
glycogen synthase &
Inactivating glyrogen phosphorylase .

activates (AMP dependent protien

* In
Jasting state
Gluzagon
Kinase which in turn activates Glylogen phosphorylase .

Not
much significance
just gothrows
one
cycle Amphibolia Patway Fluroacetate inhibits Aconitase
ICA .
:
# >
-

Our City Is Kept Safe And >

- Arsenate inhibity alpha Keto
glutarate dehydrogenase
Sound From Malice
Malonate inhibits succinate dehydrogenase
.

• Oxaloacetate 3 NADH & 1 FADH2 are .

produced
• Citrate
ITCA cycle 10
of ATP from
:
Total No
• Isocitrate
·

• α-Ketoglutarate FADHL is produced by Succinate

Dehydrogenase
.

• Succinyl-CoA
Vitamins Pantothenic Acid In CoA
• Succinate : >
-

• Fumarate Thiamine in-XKGOH

• Malate
Riboflavin & Niacin-FD
Oxidative
# Oxidative Phosphorylation : # Uncouples of Phosphorylation :

FCCP
① Chemical : 2, 4 Dinitropherol ; Dinitrocresol ; Aspirin ,

Chain F A
② Physiological Thermogenin ;
:
Thyronine; Long
. .

③
Conophores :
Valinomycin ; Gramicidin

Mixed diet 85
Respiratory quotient
0
#
.
:

Carb > Protien> Fat > Alshol Exclusive Carb diet 1 00

:

>
100 0 81
.
7 0 71
.
70 66 .
Excurs Carb diet 11 . 00

# phospholipids Sphingolipids
#Linds
#
:

Pigment
Refinitis a
>
- Sphingomylien
Fetal Brain &
>
- DHA func" :
Development of Rena ↓
Po-+
Omega Jatly
Acids
* Trans
Fatty .
Acid * 3 Ceramide + Choline

6 ATAG ↑LDL dHDL 4b Cardiovascular Risk ↓

, ,

↑ Cardiovascular Risk & Replaces Arachadonia Acid used in Mylein Sheath

I inflammation from platelets used in white matter

of
↑ insulin resistance . ↓ Thromboxanes Bran
-

↓ Inflammation
.

# Sources of Fatty Acida :

# Glycolipids : >
- Ceramide +
Carbohydrate ·

- Coconut Oil
· Saturated Fatty Acid
· PUFA - Safflower - Sunflower Oily

· +
Linoleic Acid Safflower Oil
·
Alpha Linoic Acid - Flan Seed Oil

·
MUFA- >
Mustard/Rapeseed oil
· Trans Fat >
-
Vanaspati)Dalda
# B-oxidation of Fatty Acids :

A
Acyl CA lacetyl C

FAD

FADUL
3 by Acyl CoA
Dehydrogenase 10 ATP

aB Unsaturated Any/CA I cycle of Broxid

Hydratase & + H20
44 ATPS
Hydony/ Acyt 10 A .
produced
NAD +
NADH +
Z ↓ Hydrony Acy/ CoADH

FA < 14( does

+ Ketoacy/ La

I not use Carniline

-
5 -

Any16 A Acetyl A

# Jamacian
Vomiting Sickness
:

Fruit.
# Gaucher's Disease :
dlf Consumption of Unripe
Ackes

Fatal Condition
M/C lysosomal storage disorder Sudden
Vomiting ;
.

Inhibite
Bleeding Tendency ,
Pain Toxin :
Hypoglycin -
>
Acyl CoA

Pathological # of long Bones

. Dehydrogenase
. -

↓ before body syn.

# Fabry's Disease :
>
- No
cherry
red spot
Mental Retard
Hypohydrosis deficiency
:
X-Link Recessive .
No MCAD

Fabry's Crisis (pain in

proximal joint Resembles Rheumatic
Medium Chain Fatty Acid Duidh .
affected
Arthritis
SIDS
.

# Krabbe's Disease : Severe Neurological Deficit. -

-
Leads to

4 Hypoglycemia No Kefore Bodies

# Wolman's Disease
(SD) **
.
,

Acid Lipase Deficiency # Zellweger Syndrome) Cerebro hepatorenal Syndrome :

Watery Green Diarrhoea

① frontal bossing ⑧ Burschfield spot in iris .

Calcification of Adrenals. ⑪ Ericanthal Fold ⑪ Defect Guid" of VLCFA nidh in

Niemann Pick Disease

(iii) Hypertelorism MS VLCFA &S Phytansted
.
* Zebra
Body Inclusions are seen in .
⑭ .

;
.

# Metabolism of Lipids : ⑱ Mongoloid facies.

# Ressum's
Disease :

>
- Defect in
Phytanoy/CA hydroxylase
>
-
Pigmentary Retinopathy >
- Kathyosis
>
- Peripheral Neuropathy >
- Arrhythmia
And Scrum
* FA oridation is a source
.
of ATP for Gluconeogenesis
dX : ↑
-
Phytanic
Preparatory phase : Activation
of FA (lytoplasm)
- use 3-
t 2-poy # Ketone Body Synthesis :

From port
of FA >
-
Exclusively in liver Mitochondria
.

Cytoplasm to Mitochondria
>
- Mitochondrial HMG COA
Synthase >
- Rate
Limiting Enzyme .

4 Rate
CPT- : Limit .

Enzyme >
- Acetoacetate
& B-OH-Butyrate are used in entrahepatic tissue
.

Malony/C-A inhibity COT-1 + Actore is excreted by Lungs.

# Fatty Acid Synthesis # Tyre I Hyper Lipoprotinemia :
# Type III Hyperlipoprotenimea
Most Common end product :
Palmic
Acid
. Familial
Chylomicronemia SyndromeFamilial dysbetalipoproteremia
Material
Starting Acetyl
: C-A .

Transporter of AcetylCo-A : Citrate

.

Carboxylase (R(2)
Malony/CoA (32)
etetoA
Acaty/Co-A)_
At # Type I Hyperlipoprotienimias :
Disease
#Tangier'
:

ADP
Biotin

CO2
Familial Hypercholestrolemia

#Cetrol
Synthesis :

Animal Sterol

Stating inhibit HMG CA Reductase

Competetively
,
CA Reductas Rate Limiting Enzyme.
HMG
->

# Lipoprotions
:

# Amino Acids :

* Aspartate & Glutamate

are responsible for -
ve
charge in

B
fibrinopeptide A
and

* Serotonin (5 Hydrotryptamine) in carcinoid syndrome excessive

serotonin is produced ->

leading to increased level of

5-04 indole acticaid in wine

.
-

induces bends in Alpha helix

* Glycine .

Proline disrupts alpha helin

.
*

* Auxillary protiens that help in protien folding

# Hyperlipoprotienemas :
Molecular Chapreones
.

# Prior Related Protien Diseases :

1 . Alzheimer's Discuss 5 .

Huntington's Disease
2 . Parkinson's Disease .
1 Fronto temporal Dementia
Lateral Sclerosis
.
3 Beta thalassemia 1.

Amyotrophic
4 .

Cystic Fibrosis 0 .

Dementic with
.
Lewy Body

* PEST
sequence is
needed
for protosomal degradation
Proline (P) Glutamate (2) (s) Threonine (T)
# protienemas
Hypno . Serive

AKA Death
Kiss
of .

*
Collagen
-
:

Major type of collagen

in bone :
Type I
.

Major type of collagen

in
cartilage :
Type I
in
Major type of Collagen Microfibrils :
Tire I

Major type of Collagen in Basement Mem I

of Kidney Type:
Most Abundant Amino Acid
Glene .
# Urea Cycle Disorders Phenylketonuria :
: :
#

* Diseases associated with Collagen

:

HyperAmmonia
I > CPSI
-
defect M/c Metabolic disorder
alwo AA .

HyperAmmonia II
- OTC defet >
- Biochemical defect in
Phenylalanine
HHH Syndrome >
- Ornithine transporter Hydroxylase .

Citrulinemia I e Avigino
Succinate Synthetase & Increased Phenylalanine
Citrulinemia II - Citrin Transporter defect forms is Phenyl lactate

Arginiosuccinic
Aidaria -
Arginiosuccinate Lyase (i) Phenylacetate
Argininemia ->
Arginase defect
.
(MousyBody
* M/C Urea cysle defect Hyperammoremia #I
: & Decreases Tyrosine ↓ Melanin
#Transamination
.
>
-

&
*
Diagnosis of
Urea Cycle disorders :
Hypopigmentation
& amino acid (Fair Skin Blonde Hair)

·
② Increased Blood NHS (Ammonia)
② Check Blood pH
. Neurological Deficite
if decreased :

Organic Acidea Intractable

Vomiting
.
disorder
increased Cycle
.
if Urea
#Investigations
: :

Guthrie's Test/Bacterial
lutarate ↑ Citrulline Citrulinemia
Specific AA& Inhibition
: :
(i)
Test
↑ Ornithine :
HHH Syn (ii) Ferric Chloride Test

↑ Arginine Argininemia Phenylalanine (N 2- Jmg/d)

:
(1) Blood =

↑ Arginosuccinate Arginino (Iv) Enzyme Studies

Ping Pong
:

>
- Mechanism
.
.

Succinic Acideria
Glutamine is transport form of ammonia (r) Genetic Mutation Studies
-
.
>
- -
-

in most
organe (in
.
muche +
Alanine) i Non Specific AAY
# Treatment :

>
-
Decarbonylation of Glutamic
Acid : GABA plasma Orotic Acid >
- Phenylalanine Restricted diet

Increased
>
-
Deamination of Glutamic And : X
Ketoglutarate .
:
Hyperammonia 2
>
- Synthetic Cofactor BH4

& Hyperammonia 1
Urea/Ornithine/Kreb's decreased Concentrate neutral
Henseleit Cycle of large
:

# : +

Mitochondria
. amino acid
.

Organ
Liver
Organelles Cytoplasm
:
: ,
*

Proline , Hydroxyproline ,
Threonine , Lysine
does not transamination.
undergo
E -> Alanine increase in plasma during starvation

>
-
Glutamine increases in plasma duringthyper
ammonia .

* Phenylalanine & Tyrosine disorders

Rate COS I
limiting Step :

Allosterin activator
N-Acetyl Glutamate
.
:
# Kaptonuvia
:
(Homogenticate Duidass Defect) # Hartmup's Disease :
# Glutathione
:

- -

in brain , intestine
>
- Skin & Soleva Black
Pigmentation BOAT I not .
Synthesized
Fun" : Amino acid transport ,

Kidneys
>
- Intervertebral Disc (Ochronosis) Tryptophan accumulation >
-
Conjugation of phase
2 of Xerobiotic Run
.

-
Benzoquinoacetate Excreted
through Kidney Blue discolouration
of Diaper >
- free Radical scavenger .

4 Reductase(Flavo
protis
Black discolouration of urive on
standing Neurological deficits , intermittent * Erythrocytic Glutathione
you alkalanisation
.
-
Ataxia .

Pellagra like
Syp
-
Indicates Riboflavin (B2) Status
.

Investigation Garod's Tetrad

Investigation ObermeyerTest
:
# : :
Used to
Synthesize
#ine :

) Ferric Chloride Test (i) Cystinuria (ii) Albinism Tt Lipid Soluble ester
of Phosphatidylserine
Cysteine
:
T ,

: Silver Nitrate Test (i) Alkaptonuria (iv) Pentosuria Tryptophan >

- Precursor Amino Acid for Selenocysteine
> Xray : Bamboo
Spire/Parrot Beak app
. >
- Choline & Betaine .

* Treatment
Nitsinone (inhibits PUPP) & Cystiens Disorders
# Methionine
: :
.

Hydroxylase .

#
Arginine used to synthesize
Nitric Oxide
Pheochromocytoma (i)
:
#

Advenal Medulla Tumor (↑ Catecholamines (ii) Agantine

Triad of
Symptoms :
Palpitations + Headache +
Sweating
. (iii) Urea

Folate
Plasma/Urine Metanephrines * Trap Deficiency of B12
:

Investigations
:
(ivs Or withine

& VNA (levels increased). ↑ N5 Methyl THFA

* Vanilly/Mandelic Aid (VMA) :

is end product of * Cystinuria :
Dibasic Amino acid transporter
Disorders & Defective
catabolism of Catacholamines and is excreted in urine
defect .
Cystiene Excreted from Enzymes :

in

follow
Pheochromocytoma This
up Neuroblastoma and
. can be used to

ganlioneuma .
&
diagnose
Ornithine
Lysine
Arginine
3 Kidney
Dipeptide
as

.
(i) Albinism : Tyrosinase

BIRD
LIMSUD :
CoA
* Albinism :
Tyrosinase defect .

* Cystinosis :
Lysosomal Storage Disorder (ii) Isovalerie :
Isovalevy)
Aciduria Dehydrogenase
.
- -

Milky white Hair and Skin

.
Cystinosin Defect . Liver
Jaliure Kidney Jaliure
,

. () Homocystinuria : Cystathionine
Lacrimatio Photophobia Corneal .
, Bone marrow suppression ,
Opacity Beta .
Synthase

# Tryptophan :
* Maple Syrup Urine Disease :
(v) Pheny/Kentonuria Phenylalanine :

Hydronylash
- .

Ketone Glucose
Lis Catabolic
dehydrogenase defect
>
- a BCKA
.

(ii) Anabolic >

- Serotonin Meanin
,
,
NaDt (vitB3) Faliure to thrive
, Lethargy ,
Convulsions (VI) Alkaptonuria Homogentiate
:

Oxidase
RLE
.

RLS :
3-04 authravitate - >
- NAD + (VitBs) Floppy Baby with bouts of Hypertonia
GPRTase
↓ Hypotonia Maple Syrup/Burnt Sugar
.
(v) Tyrosinemia I :
Fumary/ Acetate
Hydrolase
* Pyridonal Phosphate deficiency >
- By (Niacin] deficiency or Caramel odour
.

(Pellagra symptoms)
like
Investigation : Urine +ve
for Rothera's Test .

(VI) Tyrosinemia I Tyrosinase :

Transaminase
* Serotonin synthesized in
Argentaffin cells brain , platalets 8417 Tt : Thiamine Supplementation -
.

* Melatonin synthesized in pincalgland .

(X) Tryrosinemia III : PHOP
-
.

# arcinoidumor
: # Glyine .

Creative
Glycine +
Arginine + Mettionine .
=
Cells.
Tumor of Argentaffin
>
-

Serotonin Glutamic Acid + Cystiere + Glycine =

Y glutamyl cysteing/glycine
.
Neuroendocrine tumor producing excen >
-
.

↑ 5-HAA in urive 24hrs ;

Fun" Neurotransmitter
.
Pellegra
as
Flushing + Diarrhea + like symploms
.
#orphyrias (Very Important)

Type I Tyrosinemia
:
#

Oculocutaneous Syndrome /Richner Hanhart Syndrome .

Hyper Keratotic
Non pruvidia plaques
soles .
our
of foot
# Homocystinuria : Prove to thromboembolism
-

Nitroprusside
Investigation Ganide
: # Alkaptonuria :

-
Test -

Black discolouration

Pinna
of # DNA polymerases in
Prokaryote
① DNAP1 (klenowpolymerase)
# Molecular Biology
:
* Hereditary Orotic Aciduria :
(AR)
-
aka
Kornberg's Enzyme
-

Denovo synthetic pathway of pyrimidine defect

.
Fun" :
DNA Repair
Lesch Nyhan Syndrome
:
*

HGORTase Deficiency If : Child with Jaliure to thrive DNA Proofreading

anemia
Only in Males (X(R) Macrocytic Hypochromic Megaloblastic
, ,
Gap filling
Mental Retardation Removal of Primers
Self
.
Mutilation

Hyperuricemia in Type I : OPRTase + OMD decarbonylass defects Repair.

& DNAP 2 :
Proofreading +

in TyreI :
Only OMP
decarbonylase .
strand
③ DNAP3
: Synthesis of leading
* Got
:
# Structure of DNA : Synthesis of Okazaki
Fragments.
Hyperuricemia Uric Acid Nephrolithiasis. DSDNA-1 75
turns/145BP+ Histore #DNA Polymerases Lukaryotes
:
.

,
.

Acute inflammatory arthritis. Octamer (HLA ,

H2B , H3
,
H4x2) & Primace Activity
Pt MTP joint my site
.
& Nucleosomes form 10 nm chromatin B Major DNA repair enzyme

Investigation
:
Arthroscopy Synovial Slid
+ Exam
Beads on
string
.
V Mitochondrial DNA synth . + Proofreading

Needle Shaped Negatively birefringent

,
monosodium 8 Lagging
strand synthesis ,
Proofreading
urate
Crystals on Polarised
light Microscopy
. Leading strand synthesis ,
Proofreading
.
Repair Defects Chain Reaction
Karyotyping Polymerase
:
# DNA :
# #
1 . 5 m/ Venous Blood

2 . Add to
phytohemagglutinin
E Culture Medium

Cultura at for 3
days
.
·

3 .
37 C

Arrest : Add colchicine

4 .
Metaphase

E Hypotonic Saline

.
5
Digest with trypsin & stain

with Giemsa
J Analyse Metaphase
.
Spread :
# DNA sequencing
.

7 Karyotype is Sanger's Sequencing :

Controlled Chain Termination

.

# Post Transcriptional Modifications :

# FISH/fluorescence in-site( Most
widely accepted
.

!
Capping atSend Hybridization
(i) Pyrosequencing
:

2
Poly A
failing at 3 end >
- Applications :

DNA
sequencing technique
.

deletion
.
3
Splicing of exons
&
removal
of introns
by spliceosomes 2) Study Micro
gene Principle : Biolumiscence

4 . Alternate RNA splicing

. (i) Study Gene Amplification Enzyme Luciferase
:

structural abnormalities
Translation (ii) Numerical &
:
#
-

> Protien
RNA- (in Ribosomes (iv) Mapping of Gene
.

Steps of translation
:

#
(uses2iPOn) Banding
Techniques
:
1.
Charging of RNA

.
2 Initiation . (805 Ribosomes)
A-Site.
3. Elongation :
Binding of new Aminoacyl tRNA at

3 Termination :
.

(Releasing Factor + GTP required)

Biology Techniques
:
# Molecular

# Recombinant DNA Technology

:

& Hybridization Techniques

10
Bloting Gel Electrophoresis
>
- Southern Blot : DNA

& Northern Blot : RNA

>
- Western Blot : Protiens.

* South Western Blot :

DNA-Protien interaction
.

Microarray
:
2 .

DNA
Microarray
CDrA Microarray
Protien Microarray
.
Vitamin (Deency
#tamins Vitamin E &
: K # :

③
Scurry
·

① Tamin A Follicular
Hyperkeratosis
·

Richest Source : Halibut liver oil

·
Scorbutic
Rosary
in Live Pseudoparalysis
stored Retiny/Palmitate
·

Deficiency & Toxicity

as :
>
-

Prince Vitamin A Barlow's Syndrome

JarrE , Assay :
assay
.
# Deficiency
: Toxicity :

Gastric irritation
-

is Earliest : loss
of
vision to
green light
OxalateStones
.
his stSymptom Night : Blindne

Bitot's Spots
ii) Conjuctival Xerosis ,
④ Vitamin B
&
Vitamin ) :

(iv) Corneal Xerosis , Keratomalacia

cormal ulce ,
Opacity
() Keratinisation , Phrynoderma (Toad Skin)
() Squamous Metaplasia I Mucus secreting
epithelium
my Loss of taste
.

Pseudotumor Cerebri
Toxicity
:

Hepatomegaly ,
Cirrhosis

Pathological Fracture, Teratogenic.

② Vitamin D :

Before epiphysic closure Rickets

:

Ostermatacia transketolase
After epiphysis closure Indicator for Thiamine def Erythrocyte
: :
>
-

Reductase
* Biochemical changes in Rickets :
- Indicator for Riboflavin def Erythrocyte Glutathione
: .

2: Hyperparathyroidism Toxicity * Pantothenic Acid By Toxicity

:
↓ d S Calcium
. - >
- . * Niacin

Flushing (MX
:
Aspirin ; Caropiprant) Gopalan's Burning Foot Syndrome

Hepatotoxicity Nutritional Melalgia .

intolerance , Hyperuricemia
Glucose * Folic Acid By Toxicity
.
Macular Edema Megaloblastic Anemia

Vit D richest

Best Screening
source

Test :
:

250H
Halibut liver oil

cholecalciferol.
.
* Niacin can cause

induces insulin resistence

Hyperglycemia Homocysteinemia
Neural tubs defects .
S Seen in strict

Non
Vegans

stimulated insulin secretion

Toxicity Toxic doss in infant 50 mcg/day
. I glucose
.

Cobalamin
: :
*

Vessels ↑ BP
Contraction of Blood .
Pyridoxine (vitBs)

3
, * >
-
Megaloblastic Anemia
Calcinosis.
Toxicity Sensory Neuropathy
:
>
- Homocystenemia
seemi
a

Malonia Aciduria
Deficiency Pellagra
: like
symptoms
>
-
Methy/
Vegans
Convulsions Degeneration
Peripheral Neuropathy - Subacute Combined

Anemia ,
Oxaluria
, Homocystinuria >
- Bilateral Peripheral Neuropathy
Disease :
Diagnosis of Wilson's
S Ceruloplasmind
Biochemistry of Fee Fasting State :
>
-
.

# ux

>
- 24hr In excretion &

Standard)
>
- Liver cn
Assay (Gold
Histidine &
>
- Urine excrction of Smethy
* Selenium :
-

Nut
Rich Source Brazil
:

Keshan disease
Deficiency
- >

Kashinbeck disease .

* Line
-

Highest concentration in Hippocampus

Prostatic Fluid
.

# Imp Tests :

fine :
Metaloenzyme

Stabilise Human Insulin

Spermatogenesis

Deficiency
:

Hypogensia
Acrodermatitis Enteropathica
.

* Chromium : Potentiate the action

of insulin