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a -ketoglutará t

Ala, Cys, Gly, Hyp, Ser, Thr. Arg, His , Gln, Pro. Piruvát. L-glutamát. Ile, Leu,Trp. a -ketoglutará t. Acetil-KoA. szukcinil-KoA. Ile, Met, Val. Acetoacetil-KoA. citrát. CC. fumarát. Leu, Lys, Phe, Trp, Tyr. oxálacetát. Tyr, Phe. L -Asp , L -Asn. Phe – Tyr conversion.

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a -ketoglutará t

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  1. Ala, Cys,Gly, Hyp,Ser, Thr Arg, His, Gln, Pro Piruvát L-glutamát Ile,Leu,Trp a-ketoglutarát Acetil-KoA szukcinil-KoA Ile, Met,Val Acetoacetil-KoA citrát CC fumarát Leu,Lys,Phe,Trp,Tyr oxálacetát Tyr, Phe L-Asp, L-Asn

  2. Phe – Tyr conversion • Hyperphenylalaninaemy I: henylalanin-hydroxylase (PKU classic) • Dihydrobiopterin-reductase (hyperphenylalanaemy II, III) • Dihydrobiopterin biosynthesis damage (hyperphenylalaninaemy IV, V)

  3. Phe – Tyr conversion Hyperphenylalaninaemy I: phenylalanin-hydroxylase (PKU classic) Dihydrobiopterin-reductase (hyperphenylalanaemy II, III) Dihydrobiopterin biosynthesis damage (hyperphenylalaninaemy IV, V)

  4. Alternative degradation products of Phe

  5. Analysis of blood and urine samples of PKU patients

  6. Ala, Cys,Gly, Hyp,Ser, Thr Arg, His, Gln, Pro Piruvát L-glutamát Ile,Leu,Trp a-ketoglutarát Acetil-KoA szukcinil-KoA Ile, Met,Val Acetoacetil-KoA citrát CC fumarát Leu,Lys,Phe,Trp,Tyr oxálacetát Tyr, Phe L-Asp, L-Asn

  7. Catabolism of tyrosine

  8. Catabolism of tyrosine

  9. Tyr & metabolic disorders • Tyrosinemia type I: • Enzyme def.: fumaryloacetoacetate & maleilo- acetoacetate hydrolase • [Tyr]plasma 6-12 mg/dl, [Met] elevated • Acut tyrosinosis: „cabbage odor”, diarrhea, vomiting, death at age 6-8 month • Chronic tyrosinosis : enyhébb tünetek, halál ~10 éves korban

  10. Tyr & metabolic disorders • Tyrosinemia type II: • Tyrozine transaminase • [Tyr]plasma 4-5 mg/dl • Lesion of eyes and skin • Mental retardation • Neonatal tyrosinemia: • Relative deficiency of p-hydroxy-phenylpyruvate-hydroxylase • Food low in proteins

  11. Tyr & metabolic disorders • Alcaptonuria (described by Garrod in 1859) • Defect of homogentisate 1,2 digoxigenase • Urine – dark colour • Oochronosis

  12. Ala, Cys,Gly, Hyp,Ser, Thr Arg, His, Gln, Pro Piruvát L-glutamát Ile,Leu,Trp a-ketoglutarát Acetil-KoA szukcinil-KoA Ile, Met,Val Acetoacetil-KoA citrát CC fumarát Leu,Lys,Phe,Trp,Tyr oxálacetát Tyr, Phe L-Asp, L-Asn

  13. Tryptophane • tryptophanoxygenase, • kynurenineformamidase, • kynureninehydroxylase, • kynureninase, • aminotransferase, • 3-hydroxyanthranilate oxidase, • spontaneousnonenzymaticreaction, • picolinatecarboxylase, • quinolinatephosphoribosyltransferase, • (10) aldehydedehydrogenase, and • (11) complex series of reactions

  14. L-Trp - catabolism

  15. L-Trp - catabolism • Lack of Vitamin B6: • Accumulation of Xanturenate • Hartnup disease: • Autoszomal recessivedisorder • Defect of transport of neutral amino acids in the intestine, kidneys • Aciduria of neutral amino acids • Extretion of degradation products – indol - of Trp • Biosynthesis of Niacin is decreased – Pellagra like symptoms

  16. Ala, Cys,Gly, Hyp,Ser, Thr Arg, His, Gln, Pro Piruvát L-glutamát Ile,Leu,Trp a-ketoglutarát Acetil-KoA szukcinil-KoA Ile, Met,Val Acetoacetil-KoA citrát CC fumarát Leu,Lys,Phe,Trp,Tyr oxálacetát Tyr, Phe L-Asp, L-Asn

  17. Lys Ketogenic

  18. Lys-catabolism

  19. Lys-catabolism • Defect of saccharopin dehydrogenase: • Autosomal recessive disorder

  20. Ala, Cys,Gly, Hyp,Ser, Thr Arg, His, Gln, Pro Piruvát L-glutamát Ile,Leu,Trp a-ketoglutarát Acetil-KoA szukcinil-KoA Ile, Met,Val Acetoacetil-KoA citrát CC fumarát Leu,Lys,Phe,Trp,Tyr oxálacetát Tyr, Phe L-Asp, L-Asn

  21. Catabolism of Met, Ile & Val

  22. Catabolism of Met, formation of active Met

  23. Catabolism of Met, formation of active Met

  24. Metlebontása hiperhomociszteinémia

  25. Metlebontása

  26. A Met katabolizmusa: az aktív Met képződése

  27. Homocystein metabolismus

  28. Catabolismus of Met, Ile & Val

  29. Catabolism of branched chain amino acids Leu Ile Val

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