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Disorders of Ornithine, Lysine, and Tryptophan

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Physician’s Guide to the Treatment and Follow-Up of Metabolic Diseases

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References

  1. Bjugstad KB, Goodman SI, Freed CR (2000) Age at symptom onset predicts severity of motorimpairment and clinical outcomeof glutaric acidemia type I. J Pediatr 137:681–686

    CAS  PubMed  Google Scholar 

  2. Casey RE, Zaleski WA, Philp M, Mendelson IS, MacKenzie SL (1978) Biochemical and clinical studies of a new case of alpha-aminoadipic aciduria. J Inherit Metab Dis 1:129–135

    Article  CAS  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

    CAS  PubMed  Google Scholar 

  4. Dancis J, Hutzler J, Ampola MG, Shih VE, Gelderen HH van, Kirby LT, Woody NC (1983) The prognosis of hyperlysinemia: an interim report. Am J Hum Genet 35:438–442

    CAS  PubMed  Google Scholar 

  5. Elpeleg N, Korman SH (2001) Sustained oral lysine supplementation in ornithine deltaaminotransferase deficiency. J Inherit Metab Dis 24:423–424

    Article  CAS  PubMed  Google Scholar 

  6. Giordano C, De Santo NG, Pluvio M, Santinelli R, Stoppoloni G (1978) Lysine in treatment of hyperornithinemia. Nephron 22:97–106

    Article  CAS  PubMed  Google Scholar 

  7. Heinanen K, Nanto-Salonen K, Komu M, Erkintalo M, Heinonen OJ, Pulkki K, Valtonen M, Nikoskelainen E, Alanen A, Simell O (1999) Muscle creatine phosphate in gyrate atrophy of the choroid and retina with hyperornithinaemia-clues to pathogenesis. Eur J Clin Invest 29:426–431

    CAS  PubMed  Google Scholar 

  8. Hoffmann GF, Trefz FK, Barth P, Böhles HJ, Biggemann B, Bremer HJ, Christensen E, Frosch M, Hanefeld F, Hunneman DH, Jacobi H, Kurlemann G, Lawrenz-Wolf B, Rating D, Roe CR, Schutgens RB, Ullrich K, Weisser J, Wendel U, Lehnert W (1991) Glutaryl-CoA dehydrogease deficiency: a distinct encephalopathy. Pediatrics 88:1194–1203

    CAS  PubMed  Google Scholar 

  9. Hoffmann GF, Athanassopoulos S, Burlina AB; Duran M, deKlerck JBC, Lehnert W, Leonard JV, Monavari AA; Müller E, Muntau AC, Naughten ER, Plecko-Starting B, Superti-Furga A, Zschocke J, Christensen E (1996) Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 27:115–123

    CAS  PubMed  Google Scholar 

  10. Kaiser Kupfer MI, Caruso RC, Valle D (1991) Gyrate atrophy of the choroid and retina. Long-term reduction of ornithine slows retinal degeneration. Arch Ophthalmol 109:1539–1548

    CAS  PubMed  Google Scholar 

  11. Kölker S, Raemekers VT, Zschocke J, Hoffmann GF (2001) Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-CoA dehydrogenase gene. J Pediatr 138:277–279

    PubMed  Google Scholar 

  12. Monavari AA, Naughten ER (2000) Prevention of cerebral palsy in glutaric aciduria type I by dietary management. Arch Dis Child 82:67–70

    Article  CAS  PubMed  Google Scholar 

  13. Peltola K, Heinonen OJ, Nanto-Salonen K, Pulkki K, Simell O (2000) Oral lysine feeding in gyrate atrophy with hyperornithinaemia-a pilot study. J Inherit Metab Dis 23:305–307

    Article  CAS  PubMed  Google Scholar 

  14. Schulze A, Lindner M, Kohlmueller D, Olgemoeller K, Mayatepek E, Hoffmann GF (2003) Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics 111:1399–1406

    Article  PubMed  Google Scholar 

  15. Strauss KA, Puffenberger EG, Robinson DL, Morton DH (2003) Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet 121:38–52

    Google Scholar 

  16. Valle D, Walser M, Brusilow SW, Kaiser-Kupfer M (1980) Gyrate atrophy of the choroid and retina: amino acid metabolism and correction of hyperornithinemia with an arginine-deficient diet. J Clin Invest 65:371–378

    Article  CAS  PubMed  Google Scholar 

  17. Valle D, Walser M, Brusilow S, Kaiser-Kupfer MI, Takki K (1981) Gyrate atrophy of the choroid and retina. Biochemical considerations and experience with an argininerestricted diet. Ophthalmology 88:325–330

    CAS  PubMed  Google Scholar 

  18. Weleber RG, Kennaway NG (1981) Clinical trial of vitamin B6 for gyrate atrophy of the choroid and retina. Ophthalmology 88:316–324

    CAS  PubMed  Google Scholar 

  19. Weleber RG, Kennaway NG, Buist NR (1978) Vitamin B6 in management of gyrate atrophy of choroid and retina. Lancet 2:1213

    CAS  PubMed  Google Scholar 

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Authors
  1. Georg F. Hoffmann
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  2. Andreas Schulze
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Editor information

Editors and Affiliations

  1. Division of Clinical Chemistry and Biochemistry, University Children’s Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland

    Nenad Blau

  2. Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, 30, Guilford Street, London, WC1N 1EH, UK

    James Leonard

  3. Universitätsklinik für Kinder- und Jugendmedizin, Im Neuenheimer Feld 150, D-69120, Heidelberg, Germany

    Georg F. Hoffmann

  4. Division of Clinical & Metabolic Genetics, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, M5G 1X8, Canada

    Joe T. R. Clarke

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© 2006 Springer-Verlag Berlin Heidelberg

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Hoffmann, G.F., Schulze, A. (2006). Disorders of Ornithine, Lysine, and Tryptophan. In: Blau, N., Leonard, J., Hoffmann, G.F., Clarke, J.T.R. (eds) Physician’s Guide to the Treatment and Follow-Up of Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-28962-3_14

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  • DOI: https://doi.org/10.1007/3-540-28962-3_14

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-22954-4

  • Online ISBN: 978-3-540-28962-3

  • eBook Packages: MedicineMedicine (R0)

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