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Disorders of the Urea Cycle and Related Enzymes

  • Chapter
Inborn Metabolic Diseases

Abstract

Six inherited disorders of the urea cycle are well described (Fig. 20.1). These are the deficiencies of carbamoyl phosphate synthetase (CPS), ornithine transcarbamoylase (OTC), argininosuccinate synthetase, argininosuccinate lyase, arginase, and N-acetylglutamate synthetase (NAGS). Deficiencies of glutamine synthetase and of citrin have also been described. All these defects 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 that rapidly progresses from poor feeding, vomiting, lethargy or irritability and tachypnoea to fits, coma and respiratory failure. In infancy, the symptoms are less severe and more variable. Poor developmental progress, behavioural problems, hepatomegaly and gastrointestinal symptoms are common. Children and adults frequently have a chronic neurological illness that is characterised by variable behavioural problems, confusion, irritability and episodic vomiting. However, during any metabolic stress the patients may become acutely unwell. Arginase deficiency has more specific symptoms, such as spastic diplegia, dystonia, ataxia and fits. All these disorders have autosomal- recessive inheritance except ornithine transcarbamoylase deficiency, which is X-linked.

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Author information

Authors and Affiliations

  1. Biochemistry, Endocrinology and Metabolic Unit, Institute of Child Health, Great Ormond Street Hospital for Children, 30 Guilford Street, London, WC1N 1EH, UK

    James V. Leonard

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  1. James V. Leonard
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Editor information

Editors and Affiliations

  1. Department of Pediatrics, University Hospital Groningen, Burgemeester Weertslaan 31, 8162 DP, Epe, The Netherlands

    John Fernandes

  2. Unité de Métabolisme, Département de Pédiatrie, Hôpital Necker Enfants Malades, 149 Rue de Sèvres, 75043, Paris Cedex 15, France

    Jean-Marie Saudubray

  3. Metabolic Research Group, Christian de Duve Institute of Cellular Pathology, University of Louvain Medical School, Avenue Hippocrate 75-39, 1200, Brussels, Belgium

    Georges van den Berghe

  4. Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Hospital Road, Pendlebury, Manchester, M27 4HA, UK

    John H. Walter

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© 2006 Springer Medizin Verlag Heidelberg

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Leonard, J.V. (2006). Disorders of the Urea Cycle and Related Enzymes. In: Fernandes, J., Saudubray, JM., van den Berghe, G., Walter, J.H. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg . https://doi.org/10.1007/978-3-540-28785-8_20

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  • DOI: https://doi.org/10.1007/978-3-540-28785-8_20

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-28783-4

  • Online ISBN: 978-3-540-28785-8

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