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Int. J. Neonatal Screen. 2015, 1(1), 27-35; doi:10.3390/ijns1010027

Mini-Review: Challenges in Newborn Screening for Urea Cycle Disorders

Division of Metabolism, University Children's Hospital, Zurich 8032, Switzerland
Children's Research Center, Zurich 8032, Switzerland
Author to whom correspondence should be addressed.
Academic Editor: Ralph Fingerhut
Received: 17 February 2015 / Revised: 16 April 2015 / Accepted: 18 May 2015 / Published: 28 May 2015
View Full-Text   |   Download PDF [268 KB, uploaded 28 May 2015]   |  


Urea cycle disorders (UCDs) comprise a group of recessive and one X-linked inherited errors of protein metabolism that, due to insufficient detoxification of excess nitrogen, can lead to severe neurological disease. The key feature, but at the same time only a surrogate marker of UCDs, is the resulting mild to severe hyperammonemia. Biochemical analysis is needed to strengthen the suspicion of any underlying UCD but remains for the majority of cases rather indicative than diagnostic due to the lack of definite markers. Thus, in order to confirm a specific UCD, mutation analysis or enzyme assays are the methods of choice. Because of the drastic clinical complications of severe hyperammonemia, an early diagnosis before onset of symptoms would be desirable. The best way to achieve this would be to implement a general newborn screening for these disorders. However, there are several challenges that need to be overcome before newborn screening for UCDs can be introduced. This review will briefly describe the technical and clinical challenges involved in newborn screening for UCDs and will then discuss current experiences with this approach. View Full-Text
Keywords: newborn screening; urea cycle disorders; hyperammonemia; nitrogen metabolism; citrulline; glutamine; neonatal screening newborn screening; urea cycle disorders; hyperammonemia; nitrogen metabolism; citrulline; glutamine; neonatal screening

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Rüfenacht, V.; Häberle, J. Mini-Review: Challenges in Newborn Screening for Urea Cycle Disorders. Int. J. Neonatal Screen. 2015, 1, 27-35.

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