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The  -amino group Transamination Exception –Pro –Hyp –Thr –Lys.

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Az előadások a következő témára: "The  -amino group Transamination Exception –Pro –Hyp –Thr –Lys."— Előadás másolata:

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2 The  -amino group Transamination Exception –Pro –Hyp –Thr –Lys

3 Catabolism of carbonic skeleton of amino acids Medical importance: –Disease - low frequency –Mental retardation –Prenatal diagnosis –Postnatal diagnosis - treatment

4 Catabolism of carbon skeleton Amphybolic intermedier Glucoplastic 13 ketoplastic 1 Gluco- and ketoplastic 5 Ala, Arg, Asp, Cys, Glu, Gly, His, Hyp, Met, Pro, Ser, Thr, Val LeuIle, Lys, Phe, Trp, Tyr

5  -Ketoglutarate Succinyl-CoA Fumarat l-Glutamate Arg, His Gln, Pro Ile, Met, Val Tyr, Phe Citrat cyclus Oxalacetat l-Aspartat l-Asn Citrate Acetyl-CoA Pyruvate Ala, Cys, Gly, Hyp, Ser, Thr Ile, Leu, Trp Leu, Lys, Phe, Trp, Tyr Acetoacetyl-CoA

6 Asn, Asp - Oxaloacetate Asparaginase Transaminase

7  -Ketoglutarate Succinyl-CoA Fumarat l-Glutamate Arg, His Gln, Pro Ile, Met, Val Tyr, Phe Citrat cyclus Oxalacetat l-Aspartat l-Asn Citrate Acetyl-CoA Pyruvate Ala, Cys, Gly, Hyp, Ser, Thr Ile, Leu, Trp Leu, Lys, Phe, Trp, Tyr Acetoacetyl-CoA

8 Gln & glu  -ketoglutarate Glutaminase Transaminase

9 ProlineArginine L-glutamat-  -semialdehyd L-Glutamat  -ketoglutarate Pro -  -ketoglutarate

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11 Pro -  -ketoglutarate (1)

12 Pro -  -ketoglutarate (2)

13 Pro -  -ketoglutarate 2 autosomal recessive hyperprolinemia –Hyperprolinaemia I: prolin-dehydrogense (Hz – symptoms of hyperprolinaemia) –Hyperprolinaemia II: Glutamate-  semialdehyd dehydrogenase (hyperhydroxypolinaemia, Hz absence of symptoms of hyperprolinaemia)

14 Arg & ornitin -  -ketoglutarate

15 The defect of ornitin  aminotransferase results in: [ornitin] is enhanced, blindness. Hyperornitinaemia – hyperammonaemia syndrom: [ornitin] plazma is enhanced. Lowered mitochondrial transport.

16 L-His -  -ketoglutarate L-His HistidaseHistidinaemia Urokanate UrokanaseUrokaninic acidaemia 4-imidazolon-5-propionate ~ dehidrogenase F(iglu) Glutamate forminino transferaseFolic acid deficiency / test L-Glu transaminase  -ketoglutarate

17 L-His -  -ketoglutarate

18 Histininaemia –Histidase enzyme defect: 1:11500 –[His] blood, urine is elevated –Typical impediment in speech, benign syndrome Urokaninic aciduria –Autosomal recessive inheritance –[His] urine is elevated –benign syndrome

19  -Ketoglutarate Succinyl-CoA Fumarat l-Glutamate Arg, His Gln, Pro Ile, Met, Val Tyr, Phe Citrat cyclus Oxalacetat l-Aspartat l-Asn Citrate Acetyl-CoA Pyruvate Ala, Cys, Gly, Hyp, Ser, Thr Ile, Leu, Trp Leu, Lys, Phe, Trp, Tyr Acetoacetyl-CoA

20 Amino acids - pyruvate L-Threonin L-Glycine L-Serin Pyruvat Acetyl-CoA L-Alanine L-Cystein Cystine Piruvat-dehydrogenase

21 L-Glycin Synthesis of glutathion, creatin, purine skeleton, conjugated bile acids, hem Glucoplastic aminoacid Catabolism of Gly: –Glycin – Serin – Pyruvate – Acetyl-CoA –Glycine cleavage – Glycine synthase complex

22 L-Glycin Serin hydroxymethyl transferase

23 L-Glycin Cleavage of Gly by mitochondrial glycine synthase complex

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25 Glycinuria: –0,6 – 1 g glycin/day –Oxalate-typ neprolyth –Defect in tubular reabsorption of kidneys Primary hyperoxaluria –Glycin deamination – glyoxilate, oxalate –Ca-oxalate type neprolyths L-Glycin

26 Amino acids - pyruvate L-Threonin L-Glycine L-Serin Piruvate Acetyl-CoA L-Alanin L-Cysteine Cystine

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28 Amino acids - pyruvate L-Threonin L-Glycin L-Serin Piruvat Acetyl-CoA L-Alanin L-Cysteine Cystine

29 Cystin – cystein conversion

30 Cystein – pyruvate conversion: 2 ways 2 ways –Direct oxydative: cystein sulfinate –Transamination: 3-merkaptopyruvate „activ” sulfate formation (3’- phosphoadenosine-5’-phosphosulfate) Glutathion syntesis

31 Cystein dioxygenase –Fe 2+ –NAD(P)H Desulfinase / spontan reaction Cystein – pyruvate conversion: (i) direct oxydative way Taurine

32 3-merkapto-lactate – in human urin ~ + cysteinnel disulfid – in urine [merkaptolactat – cystein] urine merkaptolactate – in cystein disulfid uria Cystein – pyruvate conversion : (ii) transamination

33 3'-phosphoadenosine-5'- phosphosulfate, (PAPS).

34 Cisztinuria (cisztin – lizin uria) Cisztinózis Homociszteinuriák A kén tartalmú aminosavak lebontásának rendellenességei

35 Amino acids - pyruvate L-Threonin L-Glycin L-Serin Piruvat Acetyl-CoA L-Alanin L-Cysteine Cystine CO 2 + NH 4 +

36 Treonin: treonin aldolase  two ways threonin aldolase Glycine  Methylen H 4 folate +CO 2 +NH 4 + Acetaldehyde L-serine Piruvate

37 Glyoxylate is formed from 4- hydroxyprolin képződik 4-hidroxi-prolin Hidroxiprolin dehidrogenáz L-  1 -Pirroline-3-hidroxi-5-karboxilát Nem enzimatikus  -hydoxi-l-glutamát-  -szemialdehid dehidrogenáz Eritro-  -hidroxi-l-glutamát transzamináz  -keto-  -hidroxiglutarát aldoláz Glioxilát + piruvát

38 4-hydroxyprolin piruvate & glyoxylate

39 Hyperhydroxyprolinaemia: –Hydroxyproline dehydrogenase –[4-hydroxyproline] plasma –Autosomal resessive trait –Glutamate-  -semialdehyde dehydrogenase –L-  1-Pyrroline-3-hydroxi-5-carboxilate –Lack of hyperprolinaemia


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