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 -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.

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Presentation on theme: " -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."— Presentation transcript:

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— —1000 Phenylpyruvate03—1.8300—2000 Phenyllactate290—550 PhenylacetateIncreased Phenylacetylglutamine 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

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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

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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

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25 Met lebontása

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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

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