Skip to main content
SpringerLink
Log in
Book cover

Inborn Metabolic Diseases pp 167–176Cite as

Urea Cycle Disorders

  • Chapter

Abstract

Five inherited disorders of the urea cycle are now well described. These are characterised by hyperammonaemia and disordered amino acid metabolism. The presentation is highly variable: those presenting in the newborn period usually have an overwhelming illness, but the presentation may be subtle in those who present later in childhood or adult life.

This is a preview of subscription content, log in via an institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   74.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Am PH, Hauser ER, Thomas GH, Herman G, Hess D, Brusilow SW (1990) Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma. N Engl J Med 322: 1652–1655

    Google Scholar 

  2. Christodoulou J, Qureshi IA, McInnes RR, Clarke JT (1993) Ornithine transcarbamylase deficiency presenting with strokelike episodes. J Pediatr 122: 423–425

    Article  PubMed  CAS  Google Scholar 

  3. Fowler GW (1979) Intermittent ataxia in heterozygote ornithine transcarbamylase deficiency. Ann Neurol 6: 185–186

    Google Scholar 

  4. Patel JS, Van’t Hoff W, Leonard JV (1994) Arginase deficiency presenting with convulsions. J Inherited Metab Dis 17: 254

    Article  PubMed  CAS  Google Scholar 

  5. Newsholme EA, Leech AR (1983) Biochemistry for the medical sciences. Wiley, Chichester, pp 491–494

    Google Scholar 

  6. Batshaw ML, Brusilow SW (1978) Asymptomatic hyperammonaemia in low birthweight infants. Pediatr Res 12: 221–224

    Article  PubMed  CAS  Google Scholar 

  7. Bachmann C, Colombo JP (1983) Increased tryptophan uptake into the brain in hyperammonaemia. Life Sci 33: 2417–2424

    Article  PubMed  CAS  Google Scholar 

  8. Hyman SL, Porter CA, Page TJ, Iwata BA, Kissel R, Batshaw ML (1987) Behavior management of feeding disturbances in urea cycle and organic acid disorders. J Pediatr 111: 558–562

    Article  PubMed  CAS  Google Scholar 

  9. Surtees RJ, Leonard JV (1989) Acute metabolic encephalopathy. J Inherited Metab Dis 12 [Suppl 11: 42–54

    Article  Google Scholar 

  10. Connelly A, Cross JH, Gadian DG, Hunter JV, Kirkham FJ, Leonard JV (1993) Magnetic resonance spectroscopy shows increased brain glutamine in ornithine carbamoyl transferase deficiency. Pediatr Res 33: 77–81

    Article  PubMed  CAS  Google Scholar 

  11. Batshaw ML, Berry GT (1991) Use of citrulline as a diagnostic marker in the prospective treatment of urea cycle disorders. J Pediatr 118: 914–917

    Article  PubMed  CAS  Google Scholar 

  12. Kendall B, Kingsley DPE, Leonard JV, Lingam S. Oberholzer VG (1983) Neurological features and computed tomography of the brain in children with ornithine carbamyl transferase deficiency. J Neurol Neurosurg Psychiatry 46: 28–34

    CAS  Google Scholar 

  13. Hudak ML, Jones MD, Brusilow SW (1985) Differ entiation of transient hyperammonaemia of the newborn and urea cycle enzyme defects by clinical presentation. J Pediatr 107: 712–719

    Article  PubMed  CAS  Google Scholar 

  14. Brusilow SW, Valle DL, Batshaw ML (1979) New pathways of nitrogen excretion in inborn errors of urea synthesis. Lancet II: 452–454

    Google Scholar 

  15. Brusilow SW (1991) Phenylacetylglutamine may replace urea as a vehicle for waste nitrogen excre tion. Pediatr Res 29: 147–150

    Article  PubMed  CAS  Google Scholar 

  16. Brusilow SW (1984) Arginine, an indispensible aminoacid for patients with inborn errors of urea synthesis. J Clin Invest 74: 2144–2148

    Article  PubMed  CAS  Google Scholar 

  17. Levin B, Russell A (1967) Treatment of hyper ferase locus in women. ammonaemia. Am J Dis Child 113: 142–144

    PubMed  CAS  Google Scholar 

  18. lafolla AK, Gale DS, Roe CR (1990) Citrate therapy in arginosuccinate lyase deficiency. J Pediatr 117: 102–105

    Article  Google Scholar 

  19. Bachmann C, Colombo JP, Jaggi K (1982) N acetylglutamate synthetase (NAGS) deficiency: diagnosis, clinical observations and treatment. Adv Exp Med Biol 153: 39–45

    CAS  Google Scholar 

  20. Tripp JH, Hargreaves T, Anthony PP et al (1981) Sodium valproate and ornithine carbamyl transferase deficiency (letter). Lancet 1: 1165–1166

    Article  PubMed  CAS  Google Scholar 

  21. Maestri NE, McGowan KD, Brusilow SW (1992) Plasma glutamine concentration: a guide to the management of urea cycle disorders. J Pediatr 121: 259–261

    Article  PubMed  CAS  Google Scholar 

  22. Dixon MA, Leonard JV (1992) Intercurrent illness in inborn errors of intermediary metabolism. Arch Dis Child 67: 1387–1391

    Article  PubMed  CAS  Google Scholar 

  23. Maestri NE, Hauser ER, Bartholomew D, Brusilow SW (1991) Prospective treatment of urea cycle dis-orders. J Pediatr 119: 923–928

    Article  PubMed  CAS  Google Scholar 

  24. Todo S, Starzl TE, Tzakis A et al (1992) Orthotopic liver transplantation for urea cycle enzyme defi-ciency. Hepatology 15: 419–422

    Article  PubMed  CAS  Google Scholar 

  25. Hauser ER, Finkelstein JE. Valle D, Brusilow SW (1990) Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltrans-N Engl J Med 322: 1641–1645

    Google Scholar 

  26. Sebesta I, Fairbanks LD. Davies PM, Simmonds HA, Leonard,IV (1994) The allopurinol loading test for the identification of carriers for ornithine carbamoyl transferase deficiency: studies in a healthy control population and females at risk. Clin Chim Acta 224: 45–54

    CAS  Google Scholar 

Download references

Authors
  1. J. V. Leonard
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. University Children’s Hospital, Oostersingel 59, 9713 EZ, Groningen, The Netherlands

    John Fernandes M.D.

  2. Hospital Necker-Enfants Malades, 149, Rue de Sèvres, 75743, Paris Cedex, France

    Jean-Marie Saudubray M.D.

  3. International Institute of Cellular and Molecular Pathology, Avenue Hippocrate 75, 1200, Brussels, Belgium

    Georges Van den Berghe M.D.

  4. Sendai, Japan

    K. Tada

  5. Portland, Oregon, USA

    N. R. M. Buist

Rights and permissions

Reprints and permissions

Copyright information

© 1995 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Leonard, J.V. (1995). Urea Cycle Disorders. In: Fernandes, J., Saudubray, JM., Van den Berghe, G., Tada, K., Buist, N.R.M. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-03147-6_14

Download citation

  • DOI: https://doi.org/10.1007/978-3-662-03147-6_14

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-03149-0

  • Online ISBN: 978-3-662-03147-6

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation