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Understanding Amino Acid Catabolism: Mechanisms, Disorders, and Clinical Implications

This comprehensive overview examines the catabolism of amino acids, focusing on transamination processes and their medical significance, including low-frequency disorders like hyperprolinemia and related mental retardation. It discusses enzymatic defects, prenatal and postnatal diagnosis, and the role of amino acid derivatives in diseases. Key metabolic pathways such as the conversion to pyruvate and acetyl-CoA are highlighted. Understanding these processes is crucial for recognizing and diagnosing amino acid-related conditions.

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Understanding Amino Acid Catabolism: Mechanisms, Disorders, and Clinical Implications

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  1. Thea-amino group • Transamination • Exception • Pro • Hyp • Thr • Lys

  2. Catabolism of carbonic skeleton of amino acids • Medical importance: • Disease - low frequency • Mental retardation • Prenatal diagnosis • Postnatal diagnosis - treatment

  3. Catabolism of carbon skeleton

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

  5. Asn, Asp - Oxaloacetate • Asparaginase • Transaminase

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

  7. Gln & glu a-ketoglutarate • Glutaminase • Transaminase

  8. Pro -a-ketoglutarate Proline Arginine L-glutamat-g-semialdehyd L-Glutamat a-ketoglutarate

  9. Pro -a-ketoglutarate (1)

  10. Pro -a-ketoglutarate (2)

  11. Pro -a-ketoglutarate • 2 autosomal recessive hyperprolinemia • Hyperprolinaemia I: prolin-dehydrogense (Hz –symptoms of hyperprolinaemia) • Hyperprolinaemia II: Glutamate-g-semialdehyd dehydrogenase (hyperhydroxypolinaemia, Hz absence of symptoms of hyperprolinaemia)

  12. Arg & ornitin - a-ketoglutarate

  13. Arg & ornitin - a-ketoglutarate • The defect of ornitin d-aminotransferase results in: • [ornitin] is enhanced, blindness. • Hyperornitinaemia – hyperammonaemia syndrom: [ornitin]plazmais enhanced.Lowered mitochondrial transport.

  14. L-His -a-ketoglutarate

  15. L-His - a-ketoglutarate

  16. L-His - a-ketoglutarate • Histininaemia • Histidase enzyme defect: 1:11500 • [His]blood, urineis elevated • Typical impediment in speech, benign syndrome • Urokaninic aciduria • Autosomal recessiveinheritance • [His]urineis elevated • benign syndrome

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

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

  19. 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

  20. L-Glycin Serin hydroxymethyl transferase

  21. L-Glycin Cleavage of Gly by mitochondrial glycine synthase complex

  22. L-Glycin • 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

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

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

  25. Cystin – cystein conversion

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

  27. Cystein – pyruvate conversion:(i) direct oxydative way • Cystein dioxygenase • Fe2+ • NAD(P)H • Desulfinase / spontan reaction Taurine

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

  29. 3'-phosphoadenosine-5'-phosphosulfate, (PAPS).

  30. Amino acids - pyruvate L-Threonin L-Glycin CO2 + NH4+ Cystine L-Serin Piruvat L-Cysteine L-Alanin Acetyl-CoA

  31. Treonin: treonin aldolaseètwo ways Acetaldehyde threonin aldolase Glycineè Methylen H4 folate +CO2+NH4+ L-serine Piruvate

  32. Glyoxylate is formed from 4-hydroxyprolin képződik

  33. 4-hydroxyprolin piruvate& glyoxylate

  34. 4-hydroxyprolin piruvate& glyoxylate • Hyperhydroxyprolinaemia: • Hydroxyproline dehydrogenase • [4-hydroxyproline]plasma • Autosomal resessive trait • Glutamate-g-semialdehyde dehydrogenase • L-D1-Pyrroline-3-hydroxi-5-carboxilate • Lack of hyperprolinaemia

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