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 that rapidly progresses from poor feeding, vomiting, lethargy or irritability and tachypnoea to fits, coma and respiratory arrest. In infancy, the symptoms are less severe and more variable. Poor developmental progress, behavioural problems, hepatomegaly and gastrointestinal symptoms are usually observed. In children and adults, chronic neurological illness is characterised by behavioural problems, confusion, irritability and cyclic vomiting, which deteriorates to acute encephalopathy during metabolic stress. Arginase deficiency shows more specific symptoms, such as spastic diplegia, dystonia, ataxia and fits. All urea-cycle disorders have autosomal-recessive inheritance except ornithine carbamoyl transferase deficiency, which is X-linked.
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Leonard, J.V. (2000). Disorders of the Urea Cycle. 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_17
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DOI: https://doi.org/10.1007/978-3-662-04285-4_17
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