synthesis of nonessential amino acids and inborn error of metabolism

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  • 8/3/2019 Synthesis of Nonessential Amino Acids and Inborn Error of Metabolism

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    M`hgf Mlhk @i{mofjh|`-?91*111

    Dis mri lf``fg

    [f{mj fr Qmr{hmj Jf|| fd Ml{hth{x

  • 8/3/2019 Synthesis of Nonessential Amino Acids and Inborn Error of Metabolism

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    Kidil{| fd M`hgf Mlhk @i{mofjh|`

    Jf|| fd ig~x`i ml{hth{x

    Mlly`yjm{hfg fd `i{mofjh{i|

    @ig{mj ri{mrkm{hfg %hg `mgx kh|im|i|(

  • 8/3/2019 Synthesis of Nonessential Amino Acids and Inborn Error of Metabolism

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    Qeigxjbi{fgyrhm %QBY(

    _ijm{htijx lf``fg

    Lmg oi im|hjx ki{il{ik

    @fri {emg fgi dfr` iuh|{

    Lmg ri|qfgk {f khi{mrx {rim{`ig{

    OE?

    _ikyl{m|i

    OE?\xg{ei{m|i

  • 8/3/2019 Synthesis of Nonessential Amino Acids and Inborn Error of Metabolism

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    [i{rmexkrfohfq{irhg h| ri}yhrik hg {ei

    |xg{ei|h| fd |f`i giyrf{rmg|`h{{ir|

    QBY h| lemrml{irh~ik ox ehce qjm|`m jitijfd qeigxjmjmghgi mgk h{| `i{mofjh{i|

  • 8/3/2019 Synthesis of Nonessential Amino Acids and Inborn Error of Metabolism

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    Khmcgf|h| fd QBY

    Imrjx khmcgf|h| h| h`qfr{mg{

    Gifgm{mj khmcgf|h| ;5 efyr| md{ir ohr{e

    [i|{hgc m{ ohr{e 777Dmj|i gicm{hti

    Mg{igm{mj khmcgf|h|

    Cigi{hl `i{efk| Dfr{x `y{m{hfg| fr `fri mri bgfsg

  • 8/3/2019 Synthesis of Nonessential Amino Acids and Inborn Error of Metabolism

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    [rim{`ig{ fd QBY

    @f|{ gm{yrmj qrf{ihg| lfg{mhg Qeigxjmjmghgi

    \xg{ei{hl m`hgf mlhk qriqirm{hfg| sh{e |f`igm{yrmj dffk fd jfs Qei lfg{ig{'

    _iqim{ik im|yri`ig{ fd qjm|`m qei jitij

    [xrf|hgi y|{ oi |yqqjhik

    @y|{ oichg imrjx

    md{ir ohr{e {f

    qritig{ `ig{mj

    ri{mrkm{hfg

    [rim{`ig{ fd QBY

  • 8/3/2019 Synthesis of Nonessential Amino Acids and Inborn Error of Metabolism

    11/15

    [rim{`ig{ fd QBY

    Jhdi jfgc `mgmci`ig{

    h| gili||mrx

    @m{irgmj QBY

    Di{y| lmg oi mddil{ik hd yg{rim{ik `f{eir

    LG\ `mghdi|{m{hfg|

    Lfgcigh{mj eimr{ kidil{|

    Khi{mrx lfg{rfj |efyjk |{mr{ qrhfr {f

    lfgliq{hfg mgk {erfycefy{ qricgmglx

  • 8/3/2019 Synthesis of Nonessential Amino Acids and Inborn Error of Metabolism

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    @mqji \xryq Yrhgi Kh|im|i

    Kidhlhiglx fd ormgleik-

    lemhg -bi{f mlhk

    kiexkfcigm|i

    Tmj* Jiy* Hji

    Mlly`yjm{hfg fd M hgf

    Mlhk| mgk -bi{f mlhk Dm{mj kh|im|i

    Tmj* Jiy* Hji

    {rmg|m`hgm|i

    -bi{f mlhk mgmjfc|

    kiexkrfcigm|i

    Mlxj LfM

    @mqji \xryq Yrhgi Kh|im|iLjm||hdhlm{hfg

    Ljm||hl {xqi

    Jh{{ji fr gf Ig~x`i ml{hth{x

    \x`q{f`| sh{ehg dhr|{ |itirmj kmx|

    Hg{ir`ikhm{i dfr`

    Ig~x`i

  • 8/3/2019 Synthesis of Nonessential Amino Acids and Inborn Error of Metabolism

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    @mqji \xryq Yrhgi Kh|im|i

    Khmcgf|h| mgk @mgmci`ig{ @im|yri`ig{ fd ig~x`i hg jiybflx{i|

    Imrjx khmcgf|h| h| i||ig{hmj

    [rim{`ig{ |efyjk |{mr{ drf` kmx =

    \xg{ei{hl dfr`yjm jfs hg ormgleik m hgf mlhk|

    Mjohgh|`

    Kidil{ hg {xrf|hgi `i{mofjh|`

    [xrf|hgi @ijmghg

    Qmr{hmj fr dyjj mo|igli fd {ei ig~x`i

    Khddirig{ dfr`|* khddirig{ `fki| fd hgeirh{mgli

  • 8/3/2019 Synthesis of Nonessential Amino Acids and Inborn Error of Metabolism

    14/15

    Lf`qji{i mjohgh|`

    Ef`flx|{hgiyrhm

    Ehce qjm|`m mgk yrhgmrx jitij fd

    ef`flx|{ihgi

    `i{ehfghgi

    Jfs jitij fd lx|{ihgi

    Qri`m{yri mr{irhf|ljirf|h|

    \f`i qm{hig{| mri ri|qfg|hti {f O4

    _i|{rhl{hfg fd `i{ehfghgi

    \yqqji`ig{m{hfg sh{e th{' O4* O=?

    dfjm{i

  • 8/3/2019 Synthesis of Nonessential Amino Acids and Inborn Error of Metabolism

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    Mjbmq{fgyrhm

    _mri oy{ em| eh|{frhlmjh`qfr{mgli

    Ef`fcig{h|hl mlhk fuhkm|i

    Mlly`yjm{hfg fd

    ef`fcigh{h|hl mgk

    iulri{hfg hg yrhgi

    Ojmlb qhc`ig{Gf{ jhdi {erim{ighgc