Biochemistry high yield points by GIMS


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Biochemistry Material Collected from GIMS.

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  • @doctorbhanuprakash.
    I don't belong to institute or some x.
    I respect ur comment but if you think it is copy right material why are you sharing publicly.
    I just didn't mentioned for biochemistry the institution name, for earlier i have mentioned.
    I just uploaded the material just to help my classmates no other reason.
    even same high yield points of some subjects are accessible from other websites which are not posted by you.
    thanks for informing me. i have added u name GIMS.
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  • hello its nice u shared but u shld have added as gims content - as u just copied mine and posted as yours its our institute copyrighted material .. plz do remove or add our name .. plz do respect hard work ... as we have hand written copy rightes are thr from medical board..thank u
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Biochemistry high yield points by GIMS

  1. 1. Biochemistry -- HIGH YIELD (everything is covered)CARBOHYDRATE CHEMISTRY:-Formula:- Cn H2n OnGlucose and mannose are epimers at C2 carbonGlucose galactose epimers at C4Enantimomers are mirror images to each other.α and β cyclic forms of D-glucose known as anomersC1 is anomeric carbonBenedict test reducing properties of sugarsSodium amalgam is used as reducing agent.Reduction of mono saccharides gives alcohols.Aldose reductase converts aldehydes to alcohols.Fructose is converted to sorbitol dehydrogenase (liver)Monosaccharides gives needle shaped osazones.Maltose gives sunflower shaped osazonesLactose gives powderpuff shaped osazonesMaltose (α1-4) (glucose + glucose) – maltose (hydrolysed)Lactose (βgalactose – βglucose) (β1-4) – lactase (hydrolysed)Sucrose (glucose-fructose) (α1- β2)Glucosidic bond- bond between monosaccharides.Sucrose is hydrolysed by sucrase/invertaseDextrins are breakdown product of starchInulin is a polymer of fructoseGlycogen and starch are polymer of glucoseInulin is need to assess GFRDietary fiber is cellulose (β-glycoside bond)D-glucoronic acid + N-acetyl glucosamine – Hyaluronic acidKeratin sulphate keeps cornea transparentLIPID CHEMISTRY:-
  2. 2. Biochemistry -- HIGH YIELD (everything is covered)Saturated fatty acids does not contain double bondUnsaturated fatty acids has double bondsLinolecic, linolenic and arachidonic acid (PUFA)Deficiency of EFA – phyrnoderma (toad skin)Arachidonic acid gives EicasonoidsUnsaturated fatty acids exists in Cis formHydrolysis of triacyl glycerin with alkali produces soaps(saponification)Vit.E is naturally occuring antioxidant, superoxide dismutase,urasePurity of fatty acid is checked by iodine numberRM number (Reichert-Meissl) – to check purity of butterPhospholipids – free fatty acids + alcohol + phosphate +nitrogen BaseLecithin – choline ( nitrogen base) - ( lung surfactant)Hormones like oxytocin and vasopressin action is mediated byphosphatidyl inositolSphinogophospholipid :- cerebonic acid + sphingosine + phosphate+ choline = sphingomyelin.Phospholipases – A1, A2, C, DPLA2 (phospholipase A2)– give arachidonic acidGanglioside GM2 accmulates in taysachs diseaseCholesterol –C27 H46 OCholesterol has ohg group at C3. Double bond between C5-C6Ergosterol is precussor for vit.DZaks test is used to identify the qualitative analysis ofcholesterolEmulsified fats in the intestine forms MicellesPROTEINS AND AMINO ACID CHEMISTRY:-kjeldahi’s method is used to find out protein in biologicalfluids.the amino acid glycine has H as side chainalanine has –CH3 (methyl) as side chain.Cysteine and methionine are sulphur containing aminoacid.Aspartic acid and glutamic acid are acidic aminoacidPhenyl alanine, tyrosine, tryptophan –aromatic aminoacidAlanine is glucogenic aminoacid.Leucine and lysine – ketogenic aminoacid.
  3. 3. Biochemistry -- HIGH YIELD (everything is covered)Monosodium glutamate intolerance causes chinese restaurantsyndromeD-penicilamine- used as chelating agent in Wilson’s disease(Accmulation of copper in brain)N-acetyl cysteine used in cystic fibrosis and chronic renalfailure.GABA-pentane is used as anticonvulsantLinear sequence of aminoacid seen in primary structureα helix and β sheath – secondary structure.3 diminsionalarrangement of protein –teritary2 or more poly peptide chains- quartenary structurePeptide bond – bond between 2 aminoacid.Sangers reagent – used to determine aminoacid sequenceSangers reagent used to determin insulin structureBiurate is a compound formed by heating urea to 180 degrees .process is biurate reactionCopper sulphate is used for heatin in biurate reaction.Glutathione is involved in transport of amino acfid in intestineand kidney via glutanyl cycle/meister cycle.Aspertame – artifical sweetner.NUCLEIC ACIDS AND NUCLEOTIDES:-
  4. 4. Biochemistry -- HIGH YIELD (everything is covered)Nucleotides – nitrogen base + pentose sugar + phosphateNucleoside – nitrogen base + sugarRibose and deoxyribose differs in C2Purine nucleotide is Adenosin mono phosphatePyramide nucleotide is Cyitidine MonoPhosphate,UradineMonoPhosphateAlopurinol used in the treatment of gout5- fluorouracil used in the treatment of cancersAzathioprine is used to suppress immunological rejection duringtransplantation The width of double helix of DNA – 20 Å / 2 nmEach turn of helix contains 10 base pairs Each turn of helix is34 Å2 strands of double helixd are hold by H-bondsDNA protiens are known as histonesB-DNA proposed by watson and crick in 1953A-DNA has 11 base pairs per turn.A and B- DNA are right handed helixZ-DNA is left handed helixZ-DNA has 12 base pairs per turn (zigzag)Formamide destahilses H-bonds, therefore it lowers TmFormamide used in recombinant DNA technologyThe sugar in RNA kis riboseRNA is subjected to alkali hydrolysis and DNA cannotRNA can be identified lby orcinol colour reaction because ofriboseNucleolus synthesis r-RNADNA converts M-RNA converts proteinM-RNA has 7 methyl guicnosine at 5 prime endThe 3 prime kend contains poly- A tail (MRNA)The stucture of t-RNA resembles clover leafthe acceptor arm of t-RNA has CCA cap (3prime)D-arm has dihyrouridine (t-RNA)TψC arm has T, pseudouridine and C (tRNA)ENZYMES :-There are 6 cclasses of enzymes
  5. 5. Biochemistry -- HIGH YIELD (everything is covered)The functional unit of enzyme is holoenzymeHoloenzyme is made up of apoenzyme (protein part) and co-enzyme(non-protein part).Increase in concentration of substrate increase enzyme velocityKm = ½ VmaxKm = S (substrate concentration) Km-(michaelis-menten constant)Km is defined as the substrate concentration to produce ½maximum velocity.Low Km denotes strong affinity between enzyme and substrateWhen enzymes are exposed to C and above temperaturesdenaturation occurs.All enzymes are active at neutral PH (7)The most common aminoacid at active site is serineINHIBITORS:-Xanthine oxidase – allopurinolMAO (mono amino oxidase) – ephedrine, auphetamineDihydrofolate reducatse – aminopterin, amethopterin,methotrexateAcetylcholine esterase – succinyl cholineDihydropteroate synthase – sulfanilamideVit. Kepoxide reductase – dicumorolHMG co-A reducatse – lorastatin, compactin.Disulfiran is the drug used in the treatment of alcoholismTransketolase requires TPPStreptokinase is used to remove blood clotsStreptokinase converts plasminogen to plasminAsperginase is used in treatment of leukemiasIncrease amylase – acute pancreatitisIncrease SGPT (serum glutamate pyruvate transaminase) – liverdiseasesIncrease alkaline phosphatase – rickets and bone diseasesIncrease acid phosphatase – prostate carcinomaIncrease aldolase – muscle dystrophyIncrease troponin I – MI (first marker)Increase CPK1 – BB (brain)Increase CPK2 – MB (heart)
  6. 6. Biochemistry -- HIGH YIELD (everything is covered)Increase CPK3 – MM (skeletal muscle)LIPID METABOLISM:-TG – plasma concentration is 75-150 mg/dlCholesterol – plasma concentration is 150-200 mg/dlHypercholesteremia - >250mg/dlHormone sensitive TG lipase removes fatty acid from C1 or C3 ofTAGglucagon, epinephrine, thyroxine, ACTH – increase cAMP –increase lipolysis.Insulin – decrease cAMP – decrease lipolysisGlycerol is metabolized by liver.FFA from Adipose Tissue are transported to liver by albumin.Brain, erythrocytes cannot utilize FAFA activation – cytosol (ATP, Co-A, mg2+) requires 2 ATPLong chain FA are metabolized in peroxisomesTangair’s disease – plasma HDL particles are almost absentBiosynthesis of FA in liver starts with glycerol and in adiposetissue with glucose and acetyl Co-AGlycolipids act as receptors in cell membraneAbsorption of cholesterol from intestine is by diffusionCholesterol gives bile salts, vit.D, steroid hormones (sexhormone and corticoids)Prostaglandin exhibit platelet aggregation, increase cAMP andvasodilationObesity gene – leptinβ-oxidation – mitochondriaactivation of FA in β-oxidation – cytosolmelanoyl Co-A inhibits – CAT-I, thus inhibits β-oxidationCAT-I – outer mitochondrial membraneCAT-II – inner mitochondrial membraneMedium chain aceyl Co-A dehydrogenase, rate limiting step of β-oxidation.β-oxidation of palmitate gives 106 ATPSIDS (sudden infant dead syndrome) – deficiency of medium chain
  7. 7. Biochemistry -- HIGH YIELD (everything is covered)aceyl Co-A dehydrogenase (M-CAD.)Methyl melanoic academia – vit.B12 deficiencyMethyl melanoic Co-A – requires Vit. B12Zellweger syndrome – absence of peroxisomes cerebrohepatorenalsyndrome.Zellweger syndrome – defect in long chain fatty breakdownα-oxidation – Refsums disease – accumulation of phytanic acid.ω-oxidation requires – cytochrome P450 , NADPH, O2.Ketone bodies are synthesized in liverKetone bodies are utilized by brain in prolonged starvationHMG – CoA synthase – rate limiting step in ketone bodiessynthesisKetone bodies cannot be utilized by liver because of deficiencyof thiophoraseAcetone exhaled by lungs – sweetish odur.Detection of ketone bodies in urine – rothers testGlucagon stimulates ketone bodies synthesis, insulin inhibitsTreatment of keto acidosis – insulinFatty acid bio-synthesis – cytosol.Acetyl Co-A for fatty acid biosynthesis (FAB) obtains fromcitrate lyaseNADPH in FAB obtained form HMP- pathway and malic enzymeAcetyl Co-A carboxylase – rate limiting step in FABInsulin stimulates FAB –glucagon inhibitsUn-saturated fatty acids synthesized by fatty aceyl Co-Adesaturase. Human lacks this enzyme.TAG synthesis – adipose tissueCerebronic acid + phyngosine = seramideSeramide + phosphate + choline = sphingomyelinPhospholipase A1 – cleaves FFA at C1Phospholipase A2 – cleavesFFA at C2Phospholipase C - cleaves phosphate and glycerol found inlysozomes of hepatocytesL-CAT found in lungsL-CAT activity is associated with apo-A1 of HDLSphingomyelinase deficiency niemann’s pick’s deseaseDeficiency of seramidase Fauber’s diseaseDeficiency of β-galactidase krabbe’s disease
  8. 8. Biochemistry -- HIGH YIELD (everything is covered)Deficiency of β-glucosidase gauchers diseaseDeficiency of α-galactidase fabrys diseaseDeficiency of hexosaminidase A – Taysachs diseaseCholesterol biosynthesis, liver- 50%, intestine- 15%Cholesterol synthesis- cytosol.HMG- CoA reductase – rate limiting step in cholesterolbiosynthesisCholesterol formulae :- C27 H46 OGlucagon – glucocorticoids – decrease cholesterol biosynthesisCompactin, lorastatin inhibits – HMG Co-A reductaseHMG-CoA reductase also inhibited by bileacids7-α-hydroxylase – rate limiting step in bileacid biosynthesis95% of the bile is reabsorbed and return back to liverPrimary bileacids – cholic acid chenodeoxycholic acid.Conjuation of bile acids done by – glycine , taurineDeoxycholic acid,lithocholic acid – secondary bile acidsChenodiol treat for cholilithiasisctiatn of chylomiChylomicrons has B48VLDL has B100HDL has apoprotein-AActivation of chylomicrons and VLDL requires Apo-CII and Apo-Efrom HDLLipoprotein lipase deficiency – hyperlipoprotenimia type IDefect in LDL receptors – type IIAExcess apoB – type IIBAbnormality in apo-E – type IIIOver production of TG – type IVDefect in HDL receptors – tangier’s disease
  9. 9. Biochemistry -- HIGH YIELD (everything is covered)OXIDATIVE PHOSPHORYLATION AND ETC:-Phosphophenol pyruvate is 14.8 cal/mole.S-adenosyl methionane is 10 cal/molecAMP is 12 cal/moleATP is 7.3 cal/moleThe inner mitochondrial membrane is impermeable to H+, K+ andNa+Co-enzyme Q is also known as ubiquioneComplex-I – NADH-co-encyme Q reductase inhibited by – amytal,rotenone,pricydine-AComplex III – Co-enzyme Q-cytC reductase inhibited by antimycinA,BAL (british anti lewisite)Comple IV – cytochrome oxidase inhibited by cyanide, CO, Na-azide.otation of -subunit is 12ATP synthatase has F0 and F1 subunits.F0 – channel protein C F1 – central γ subunit, 3α, 3βMutation of mitochondrial DNA – oxiphos disease AKA (lebershereditary optic neuropathy)2, A dinitrophenol – uncoupler of oxiphosphorylationDigomycin inhibits oxidative phosphorylation by binding to ATPsynthetase 2 blockes proton channelsAtractyloside inhibits oxidative phosphorylation by blocking theadequate supply of ADP.
  10. 10. Biochemistry -- HIGH YIELD (everything is covered)VITAMINS:-Vit.A:-Retinol is present in animals in the form of retinylesterRetinal,retinol and retinoic acid are vitamers of vitamin Aβ- carotene gives l2 moles of retinal by 1 ’-1 ’ di-oxygenaseretinyl esters are transported by chylomicrons and stored inliverretinol is transported in circulation by RBP 9retinal bindingprotein)rods – dim light visioncones – bright lightvit-A required for rodsrhodopsin present in rodsrhodopsin = 11-cis retinal + opsinduring walds visual cycle rhodipsin is bleached tometarhodopsin-II which increases C-GMP an degenerates nerveimpulseVit-A deficiency night blindnessSerene deficiency of vit-A causes xerophthalmia, characterizedof dryness of conjunctiva and cornea, white triangular plaques,bitot’s spots are seenXerophthalmia leads to keratomalacia causing total blindnessVit. DErgosterol (plants) ergocalciferol – vit. D2Cholecalciferol (animals)- vit.D3Vit-D synthesis takes place in skin.1,25- Di-hydroxycholecalciferal is known as calcitriol i.e.,active form of vit-D25- α -hydroxylase and 1-α-hydroxylase requires cyt-p-450, NADPHand O2Vit.D is essential for bone formationVit-D deficiency:- pickets – bowlegs – children; osteomalacia –Adults.Alkaline phosphatase activity elevated in ricketsVit-D is more toxic in over doses
  11. 11. Biochemistry -- HIGH YIELD (everything is covered)Vit-D is transported in the circulation by α2-globulin1-α-hydroxylase present in kidney and stimulated by PTH25- α –hydroxylase present in liverVit-E:-Anti sterility vitaminAlso known as tocopherols α,β,γ,δ out of these α-tocopherolsmore activeVit-E is transported by VLDL and LDL in the circulationNormal plasma levels of tocopherols <1mg/dlVit-E naturally occurring antioxidant and it requires seleniumVit-E prevents peroxidation reactions of PUFAALA-synthase requires vit.EVit-K:-Vit-K also synthesized by intestinal bacteriaBile salts are essential for absorption of vit- KTransported to liver by means of LDLVit-K is responsible for post transitional modification of2,7,9,10 clotting factors by carboxylation of glutamic acidCarboxylation of glutamic acid is inhibited by dicumarolDeficiency of vit-K leads to lack of acive prothrobin incirculationHigh doses of vit-K causes hemolytic anemiaVit-C :-Vit-C is required for collagen formationVit-C is co-enzyme for hydroxylation of proline and lysine,where protocollagen is converted to collagenDeficiency of vit-C leads to scurvy, delayed wound healing
  12. 12. Biochemistry -- HIGH YIELD (everything is covered)Vit-B1 :-co-enzyme – TPPTPP required for PDH transketolaseDeficiency seen in the people who consume polished rice as astaple foodElevation of pyruvate in plasma and excrets in urineWet-beriberi – edema – systolic increase – diastolic decrease –bouncing pulse.Dry-beriberi – no edema – neurological manifestations are seenDecrease transketoplase activity – Wernick’s korsakoff syndromeThyamine deficiency more commonly seen in alcoholics.B2 – RIBOFLAVIN:-Coenzymes – FMN, FADUsed in oxidation reduction reactionsDeficiency – cheilosis, glosittis, dermatitisAssessment of glutathione reductase in erythrocytes will beuseful in accessing riboflavin deficiencyNIACIN:-Coenzyme – NAD, NADPPellagra preventive factorNiacin coenzymes synthesized from tryptophanNiacin deficiency results pellagraPellagra symptoms – diarrhea, dementia, dermatitis – death “HD”Niacin inhibits lipolysisNiacin is used in treatment of hyperlipoprotenuria type_IIB.(increased VLDL, increased LDL)
  13. 13. Biochemistry -- HIGH YIELD (everything is covered)PYRIDOXINE: - B6Coenzyme – pyridoxine, pyridoxal pyridoxaminePyridoxine used in transamination, decarboxylation, deamination.Active form is pyridoxal phosphate (PLP) transaminationIt is required for the production of the monoamineneurotransmitters serotonin, dopamine, norepinephrine andepinephrine, as it is the precursor to pyridoxal phosphate:cofactor for the enzyme aromatic amino acid decarboxylase. Thisenzyme is responsible for converting the precursors 5-hydroxytryptophan (5-HTP) into serotonin and levodopa (L-DOPA)into dopamine, noradrenaline and adrenaline. As such it has beenimplicated in the treatment of depression and anxiety.DEFICIENCY MANIFESTATIONS:-1. neurological symptoms2. excretion of xanthurenic acid in urine3. drugs isoniazid and penicillamine can cause B6 deficiency.BIOTIN – B7It is required for carboxylation reactionsEg.:- 1. acetyl CoA carboxylase2. propony CoA carboxylase3. pyruvate carboxylasePANTOTHENIC ACID:-also known as coenzyme –Adeficiency – burning feet syndromeFOLIC ACID:-it is important for one carbon metabolismthe active form if tetrahydrofloate TH4 or THFthe most common vitamin deficiencyimportant for the synthesis of nitrogenous bases in DNA and RNA.Supplemented in pregnancy to prevent neural tube defectsDeficiency of folic acid megaloblastic anemia.In folic acid deficiency FIGLU excreted in urine.(FIGLU- formiminoglutamate)
  14. 14. Biochemistry -- HIGH YIELD (everything is covered)VITAMIN –B12 (COBALAMIN)The absorption of vit-B12 requires intrinsic factor, intrinsicfactor produced by gastric parietal cellsAbsorption of B12 into mucosal cells is Ca+2 dependentIn mucosal cells B12 converts to methyl B12From the mucosal cells transported in the plasma bytranscobalamins i.e., Tc-I and Tc-IIMethyl –B12 (mucosal cells) – 90% binds to Tc-I and 10% binds toTc-IIVit-B12 stores in liver, as deoxyadenosylB12 (storage form of vit B12)DEFICIENCY:-Methyl melanoic acidemiaPernicious anemiaNeurological manifestations (optic neuropathy)Use schilling test to detect deficiencyVit-B12 deficiency - most common cause is malabsorption sprue .HAEMOGLOBIN AND PORPHYRINS:-METABOLISM:-Heme contains porphyrin molecule known as protoporphyrin IXHeme contains 4 pyrole ringsThe central atom of heme contains FeThe adult hemoglobin – α2,β2 – HbA1Fetal hemoglobin – α2 γ2 – HbFHbA2 – α2 δ2Glycosylated hemoglobin – Hb A1 C – α2 β2 –glucose (diabetes)Fetal Hb has more affinity towards O2 than adult – HbF – 100% ;HbA1 – 95%.In heme if Fe2+ oxidizes to form Fe3+ known methehemoglobin
  15. 15. Biochemistry -- HIGH YIELD (everything is covered)BIOSYNTHESIS OF HEME:-Heme synthesis take place in liverALA synthase is rate limiting step in heme biosynthesisHEME METABOLISM :-Bilirubin bound to albumin to form bilirubin albumin complexEnters liver for conjugationBilirubin enters into intestine where it reacts with bacterialenzymes to form stercobilin which enters into feces1 gm of Hb gives 35 mg of bilirubinBilirubin- albumin complex binds to receptor LIGANDIN which inpresent on hepatocytesPorphyrias :-CARBOHYDRATE METABOLISM:-Insulin dependent glucose transport – GLIT-4 skeletal muscle,adipose tissueGLUT-1 – erythrocytesGLYCOLYSIS CYCLE:-Location – cytosol of all most all the cellsGlucokinase – liver, hexokinase – other tissuesHexokinase – low Km, glucokinase- High Km(PFK-1) Phosphofructokinase-1 – rate limiting stepSpilitting – aldolase-A . 7 ATP in aerobic glycolysis and 2 ATPin anerobicGlycolysis in RBC is always anerobicIRREVERSIBLE STEPS:-HexokinasePFK-1Pyruvate kinase ( deficiency hemolytic anemia )
  16. 16. Biochemistry -- HIGH YIELD (everything is covered)INHIBITORS:-Glycerol dehyde 3 phosphate dehydrogenase – iodoacetate ,arsenateEnolase – fluoridePhospphotriose isomerase - bromohydroxy acetone phosphateEnd product of aerobic glycolysis – pyruvateEnd product of anaerobic glycolysis – lactateGlycolysis in erythrocytes is always anaerobicNumber of ATP under aerobic glycolysis 7Number of ATP under anaerobic glycolysis 2PFK-1 is regulated by PFK-2A product of glycolysis – 2,3 BPG combines with hemoglob9in andunloads O2 to tissues.Increase 2,3-BPG shifts O2 /Hb dissociation curve to rightDecrease 2,3-BPG shifts O2/Hb dissociation curve to left.PDH COMPLEX:Location – mitochondriaEnzyme complexes:-1. E1 – pyruvate dehydrogenase – TPP2. E2 – dihydro lipoyl transacetylase – lipoamide ,CoA3. E3 – dihydro lipoyl dehydrogenase – NAD, FADInhibitors – arsenic poisoningTCA CYCLE:-Location – mitochondriaCitrate synthase - rate limitin stepNADH produce in :-1. iso citrate dehydrogenase2. α-ketoglutarate dehydrogenase3. malate dehydrogenaseFADH produced by succinate dehydrogenaseGTP produced by succinate thiokinase
  17. 17. Biochemistry -- HIGH YIELD (everything is covered)INHIBITORS:-1. Aconitase – fluroacetate2. Α-keto glutarate dehydrogenase – arsenate3. Succinate dehydrogenase – malonateNumber of ATP produced from 1 Acetyl Co-A is 10.GLUCONEOGENESIS:-Synthesis of glucose from non-carbohydrate compounds.160 gms of glucose required per day (whole body)120 gms of glucose is required brainLocation:- initial step mitochondria ; key step – cytosolRate limiting step – pyruvate carboxylaseAlanin glucogenic aminoacidGlucagon stimulates gluconeogenesis, insulin inhibitsΑlpha- cells secrets glucagoneAlcohol inhibits gluconeogenesis induces hypoglycemiaGLYCOGEN METABOLISMLiver glycogen maintains blood glucoseMuscle glycogen is used ony for muscleGlycogenesis in muscle starts with hexokinaseGlycogenesis in liver starts with glucokinaseGlycogen in protein produced by liver acts as initiator ofglycogen synthesisThe tyrosine residue of glycogenin adds glucose from UDP-G toform glycogen primerGlycogen synthatase – rate limiting step in glycogen synthesisGlycogen phosphorylase breaks glycogen at α1-4 residues.Glucagons stimulates glycogen breakdown in liverEpinephrine stimulates glycogen breakdown in muscleCalcium promotes glycogen breakdown by Ca+2 colmodulin complexGlucose 6 phosphatase deficiency –Von Girek’s diseaseLysosomal α (1, 4) glucosidase deficiency – Pompe’s disease –
  18. 18. Biochemistry -- HIGH YIELD (everything is covered)heart is more commonly involved – death occurs due to heartfailure.De-branching enzyme deficiency Anderson’s diseaseMuscle glycogen phosphorylase deficiency –MC Ardle’s diseaseLiver glycogen phosphorylase Her’s diseasePhosphofructokinase – Taruri’s disease – erythocytes, hemolysisHMP PATHWAY:-HMP pathway is only pathway which synthesizes NADPH in RBC(required for antioxidant reaction)Rate limiting step – glucose 6 phosphate dehydrogenaseDeficiency of glucose 6 phosphate dehydrogenase – hemolyticanemiaHMP pathway – synthesis of ribosesTransketolase dependent on TPP – decrease TPP – Werick’skorsakoff syndromeGlucose 6 phosphate dehydrogenase deficiency is resistant tomalariaDeficiency of xylitol dehydrogenase – essential pentosuriaGLACTOSE METABOLISM:-CLASSICAL GALACTOSEMIAInfantsDeficiency of galactose 1-phosphate Transferase uradyl.Increase galactitol by aldose reductae – cataract diagnosis –elevated galactose 1-phosphate uridyl transferaseFRUCTOSE METABOLISM:-Deficiency of fructokinase essential fructosuriaDeficiency of aldolase-B hereditary fructose intoleranceMucopolysaccharidoses-I – Iduronidase – Hurler’s syndromeMucopolysaccharidoses-II – iduronate sulfatase – Hunter’ssyndromeMucopolysaccharidoses-III – sanfilippo syndromeβ- glucuronidase – sly syndrome (Mucopolysaccharidoses-VII)