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Inborn Metabolic Diseases pp 211–228Cite as

Urea Cycle Disorders

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Summary

Patients with urea cycle disorders can present with symptoms from birth to adulthood, depending on the degree of enzyme defect and nitrogen load. Levels of ammonia in the blood should be determined in any newborn with a course which is at variance with the expectation of the clinician especially if symptoms such as loss of appetite, vomiting, seizures, loss of consciousness, or hyperpnea are present. If the plasma ammonia concentration exceeds 150 μmol/l in the newborn period or 80 μmol/1 thereafter, a full diagnostic workup should be performed without delay. If the patient is comatose or ammonia levels exceed 250 μmol/I glucose, arginine, and carnitine should be infused after obtaining plasma and urine samples. In urea cycle defects the treatment aims at limiting the exogenous and endogenous nitrogen load while covering the demand for essential amino acids; arginine (or citrulline) supplementation is needed. Nitrogen excretion is increased by supplying benzoate, which is excreted as hippurate, if necessary by dialysis. Because of the restriction of natural protein, minerals, trace elements, some vitamins, and occasionally carnitine must be substituted. A rapid diagnosis and institution of diet is essential for a good prognosis.

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Authors
  1. C. Bachmann
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Editors and Affiliations

  1. Department of Pediatrics, University Hospital, Oostersingel 59, 9713 EZ, Groningen, The Netherlands

    John Fernandes M. D. (Professor of Pediatrics) (Professor of Pediatrics)

  2. Clinique de Génétique Médicale, Hôpital des Enfants Malades, 149, rue de Sèvres, 75743, Paris Cedex, France

    Jean-Marie Saudubray M. D. (Professor of Pediatrics) (Professor of Pediatrics)

  3. Department of Pediatrics, Tohoku University, School of Medicine, 1-1 Seiryo-machi, Sendai 980, Japan

    Keiya Tada M. D. (Professor of Pediatrics) (Professor of Pediatrics)

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© 1990 Springer-Verlag Berlin Heidelberg

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Bachmann, C. (1990). Urea Cycle Disorders. In: Fernandes, J., Saudubray, JM., Tada, K. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-02613-7_17

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  • DOI: https://doi.org/10.1007/978-3-662-02613-7_17

  • Publisher Name: Springer, Berlin, Heidelberg

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