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Disorders of Lysine Catabolism and Related Cerebral Organic-Acid Disorders

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Inborn Metabolic Diseases

Abstract

Five inborn errors are known in the pathway of lysine catabolism, which is shared by tryptophan and hydroxylysine degradation.

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References

  1. Hoffmann GF, Gibson KM (1996) Disorders of organic acid metabolism. In: Moser HW (ed) Handbook of clinical neurology: neurodystrophies and neurolipidoses, vol 66. Elsevier Science, Amsterdam, pp 639–660

    Google Scholar 

  2. Kölker S, Ahlemeyer B, Krieglstein J, Hoffmann GF (1999) Hydroxyglutaric and glutaric acids are neurotoxic through NMDA receptors in vitro. J Inherit Metab Dis 22: 259–262

    PubMed  Google Scholar 

  3. Dancis J, Hutzler J, Cox RP (1979) Familial hyperlysinemia: enzyme studies, diagnostic methods, comments on terminology. Am J Hum Genet 31: 290–299

    PubMed  CAS  Google Scholar 

  4. Dancis J, Hutzler J, Ampola MG et al. (1983) The prognosis of hyperlysinemia: an interim report. Am J Hum Genet 35: 438–442

    PubMed  CAS  Google Scholar 

  5. Carson NAJ (1969) Sacccharopinuria: a new inborn error of lysine metabolism. In: Allen JD, Holt KS, Ireland JT, Pollitt RJ (eds) Enzymopenic anemias, lysosomes, and other papers, Proc 6th Symposium of SSIEM, Livingstone, Edinburgh, pp 163–173

    Google Scholar 

  6. Simell O, Johansson T, Aula P (1973) Enzyme defect in sacccharopinuria. J Pediatr 82: 54

    Article  PubMed  CAS  Google Scholar 

  7. Przyrembel H (1996) Disorders of ornithine, lysine and tryptophan. In: Blau N, Duran M, Blaskovics M (eds) Physician’s guide to the laboratory diagnosis of inherited metabolic disease. Chapman and Hall, London, pp 223–245

    Google Scholar 

  8. Przyrembel H, Bachmann D, Lombeck I et al. (1975) Alphaketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies. Clin Chim Acta 58: 257–269

    Article  PubMed  CAS  Google Scholar 

  9. Casey RE, Zaleski WA, Philp M, Mendelson IS (1978) Biochemical and clinical studies of a new case of aaminoadipic aciduria. J Inherit Metab Dis 1: 129–135

    Article  PubMed  CAS  Google Scholar 

  10. Duran M, Beemer FA, Wadman SK, Wendel U, Janssen B (1974) A patient with a-ketoadipic and a-aminoadipic aciduria. J Inherit Metab Dis 7: 61

    Article  Google Scholar 

  11. Wendel U, Rüdiger HW, Przyrembel H, Bremer HJ (1975) Alpha-ketoadipic aciduria: degradation studies with fibroblasts. Clin Chim Acta 58: 271–276

    Article  PubMed  CAS  Google Scholar 

  12. Brauner-Osborne H, Slok FA, Skjaerbaek N et al. (1996) A new highly selective metabotropic excitatory amino acid agonist• 2-amino-4-(3-hydroxy-5-methylisoxazol-4-yl)butyric acid. J Med Chem 39:3i88–3194

    Google Scholar 

  13. Bark I, Wagner L, Feyh P et al. (1999) Sensitivity and specificity of free and total glutaric and 3-hydroxyglutaric acids measurements by stable isotope dilution assays for the diagnosis of glutaric aciduria type I. J Inherit Metab Dis 22: 867–882

    Article  Google Scholar 

  14. Amir N, Elpeleg ON, Shalev RS, Christensen E (1989) Glutaric aciduria type I: enzymatic and neuroradiologic investigations of two kindreds. J Pediatr 114: 983–989

    Article  PubMed  CAS  Google Scholar 

  15. Bark I, Zschoke J, Christensen E et al. (1998) Diagnosis and management of glutaric aciduria type I. J Inherit Metab Dis 21: 326–340

    Article  Google Scholar 

  16. Haworth JC, Booth FA, Chudley AE et al. (1991) Phenotypic variability in glutaric aciduria type I: report of fourteen cases in five Canadian Indian kindreds. J Pediatr 118: 52–58

    Article  PubMed  CAS  Google Scholar 

  17. Hoffmann GF, Trefz FK, Barth P et al. (1991) Glutaryl-CoA dehydrogease deficiency: a distinct encephalopathy. Pediatrics 88: 1194–1203

    PubMed  CAS  Google Scholar 

  18. Morton DH, Bennett MJ, Seargeant LE, Nichter CA, Kelley RI (1991) Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster county, Pennsylvania. Am J Med Genet 41: 89–95

    Google Scholar 

  19. Kyllerman M, Skjeldal OH, Lundberg M et al. (1994) Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations. Mov Disord 9: 22–30

    Article  PubMed  CAS  Google Scholar 

  20. Muntau AC, Röschinger W, Pfluger T, Enders A, Hoffmann GF (1997) Subdurale Hygrome und Hämatome im Säuglingsalter als Initialmanifestation der Glutarazidurie Typ I: Folgenschwere Fehldiagnose als Kindesmißhandlung. Monatsschr Kinderh 145: 646–651

    Google Scholar 

  21. Hoffmann GF, Athanassopoulos S, Burlina A et al. (1996) Clinical course, early diagnosis, treatment and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 27: 115–123

    Article  PubMed  CAS  Google Scholar 

  22. Christensen E, Brandt NJ, Rosenberg T, Bömers K, Jakobs C (1994) The segregation of glutaryl-CoA dehydrogenase deficiency and Refsum syndrome in a family. J Inherit Metab Dis 17: 287–290

    Article  PubMed  CAS  Google Scholar 

  23. Heyes MP (1987) Hypothesis: a role for quinolinic acid in the neuropathology of glutaric aciduria type I. Can J Neurol Sci 14: 441–443

    PubMed  CAS  Google Scholar 

  24. Superti-Furga A, Hoffmann GF (1997) Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Eur J Pediatr 156: 821–828

    Article  PubMed  CAS  Google Scholar 

  25. Goodman SI, Norenberg MD, Shikes RH, Breslich DJ, Moe PG (1977) Glutaric aciduria type 1: biochemical and morphological considerations. J Pediatr 90: 746–750

    Article  PubMed  CAS  Google Scholar 

  26. Monyer H, Burnashev N, Laurie DJ, Sakmann B, Seeburg PH (1994) Developmental and regional expression in the rat brain and functional properties of four NMDA receptors. Neuron 12: 529–540

    Article  PubMed  CAS  Google Scholar 

  27. Bergman I, Finegold D, Gartner JC et al. (1989) Acute profound dystonia in infants with glutaric acidemia. Pediatrics 83: 228–234

    PubMed  CAS  Google Scholar 

  28. Christensen E (1993) A fibroblast glutaryl-CoA dehydrogenase assay using detritiation of 3H-labelled glutaryl-CoA: application in the genotyping of the glutaryl-CoA dehydrogenase locus. Clin Chim Acta 220: 71–80

    Article  PubMed  CAS  Google Scholar 

  29. Goodman SI, Stein DE, Schlesinger S et al. (1998) GlutarylCoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. Hum Mutat 12: 141–144

    Article  PubMed  CAS  Google Scholar 

  30. Schwarz M, Christensen E, Superti-Furga A, Brandt NJ (1998) The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of thirteen novel mutations causing glutaric aciduria type 1. Hum Genet 102: 452–458

    Article  Google Scholar 

  31. Biery BJ, Stein DE, Morton DH, Goodman SI (1996) Gene structure and mutations of glutaryl-CoA dehydrogenase: impaired association of enzyme subunits that is due to an A421 V muatation causes glutaric acidemia type I in the Amish. Am J Hum Genet 59x006–1011

    Google Scholar 

  32. Barth PG, Hoffmann GF, Jaeken J et al. (1992) L-2-Hydroxyglutaric acidemia: a novel inherited neurometabolic disease. Ann Neurol 32: 66–71

    Article  PubMed  CAS  Google Scholar 

  33. Barth PG, Hoffmann GF, Jaeken J et al. (1993) L-2-Hydroxy-glutaric acidemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase. J Inherit Metab Dis 16: 753–761

    Article  PubMed  CAS  Google Scholar 

  34. de Klerk JBC, Huijmans JGM, Stroink H et al. (1997) L-2Hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship. Neuropediatrics 28: 314–317

    Article  PubMed  Google Scholar 

  35. Chen E, Nyhan WL, Jakobs C et al. (1996) L-2-Hydroxyglut-aric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death. J Inherit Metab Dis 19: 335–343

    Article  PubMed  CAS  Google Scholar 

  36. Wanders RIA, Vilharinho L, Hartung HP et al. (1997) L-2-Hydroxyglutaric aciduria: normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients. J Inherit Metab Dis 20: 725–726

    Article  PubMed  CAS  Google Scholar 

  37. Hoffmann GF, Jakobs C, Holmes B et al. (1995) Organic acids in cerebrospinal fluid and plasma of patients with L-2hydroxyglutaric aciduria. J Inherit Metab Dis 18: 189–193

    Article  PubMed  CAS  Google Scholar 

  38. Gibson KM, Schor DSM, Kok RM et al. (1993) Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2hydroxyglutaric acidemias. Pediatr Res 34: 277–280

    Article  PubMed  CAS  Google Scholar 

  39. Gibson KM, Craigen W, Herman GE, Jakobs C (1993) D-2Hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder? J Inherit Metab Dis 16: 497–500

    Article  PubMed  CAS  Google Scholar 

  40. Nyhan WL, Shelton GD, Jakobs C et al. (1995) D-z-Hydroxyglutaric aciduria. J Child Neurol 10: 137–142

    Article  PubMed  CAS  Google Scholar 

  41. van der Knaap MS, Jakobs C, Hoffmann GF et al. (1999) D-2Hydroxyglutaric aciduria. Biochemical marker or clinical disease entity? Ann Neurol 45: 111–119

    Article  PubMed  Google Scholar 

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Hoffmann, G.F. (2000). Disorders of Lysine Catabolism and Related Cerebral Organic-Acid Disorders. In: Fernandes, J., Saudubray, JM., Van den Berghe, G. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-04285-4_20

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  • DOI: https://doi.org/10.1007/978-3-662-04285-4_20

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-04287-8

  • Online ISBN: 978-3-662-04285-4

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