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We would like to thank Haberle et al for their interest in our publication and welcome the opportunity to respond to their concerns.1 2
We agree that urea cycle disorders (UCD) and other secondary causes of hyperammonaemia, such as organic acidemia and fatty acid oxidation defects, should be considered in any patient presenting with an encephalopathy of unclear aetiology. The diagnosis of UCD in adulthood can transform a patient’s long-term well-being and quality of life.
However, the pursuit of a rare diagnosis must always be balanced with the potential for waste and harm to patients …
Contributors All authors contributed to the writing of this manuscript. EA: first draft, critical revision of manuscript. APJO: revision of manuscript. NL: subsequent draft, critical revision of manuscript.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; internally peer reviewed.