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

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. Plasma (mg/dL) Urine (mg/dL) MetaboliteNormalPhenylketonuricNormalPhenylketonuric Phenylalanine1—215—6330300—1000 Phenylpyruvate03—1.8300—2000 Phenyllactate290—550 PhenylacetateIncreased Phenylacetylglutamine200-3002400 Analysis of blood and urine samples of PKU patients

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

7. 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] pla s ma 4-5 mg/dl Lesion of eyes and skin Mental retardation Neonatal tyrosinemia : Relative deficiency of p-h y drox y - ph en y lp y ruv a t e - h y drox y l ase 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.  -ketoglutará t szukcinil-KoA fumarát oxálacetát citrát CC L-glutamát Arg, His, Gln, Pro Ala, Cys, Gly, Hyp, Ser, Thr Piruvát Acetil-KoA Ile, Leu,Trp Leu, Lys, Phe, Trp, Tyr Acetoacetil-KoA L-Asp, L-Asn Ile, Met, Val Tyr, Phe

13. Tryptophane (1)tryptophan oxygenase, (2)kynurenine formamidase, (3)kynurenine hydroxylase, (4)kynureninase, (5)aminotransferase, (6)3-hydroxyanthranilate oxidase, (7)spontaneous nonenzymatic reaction, (8)picolinate carboxylase, (9)quinolinate phosphoribosyltransfera se, (10) aldehyde dehydrogenase, and (11) complex series of reactions

14. L-Trp - catabolism

15. Lack of Vitamin B6 : Accumulation of Xanturen ate Hartnup disease : Autoszom al reces sive disorder Defect of transport of n eutr a l 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.  -ketoglutará t szukcinil-KoA fumarát oxálacetát citrát CC L-glutamát Arg, His, Gln, Pro Ala, Cys, Gly, Hyp, Ser, Thr Piruvát Acetil-KoA Ile, Leu,Trp Leu, Lys, Phe, Trp, Tyr Acetoacetil-KoA L-Asp, L-Asn Ile, Met, Val Tyr, Phe

17. Lys Ketogenic

19. Lys-catabolism

20. Defect of saccharopin dehydrogenase: Autosomal recessive disorder

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

22. Catabolism of Met, Ile & Val

23. Catabolism of Met, formation of active Met

25. Met lebontása

27. A Met katabolizmusa: az aktív Met képződése

28. Homocystein metabolismus

29. Catabolismus of Met, Ile & Val

30. Catabolism of branched chain amino acids Val Leu Ile