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  1. International Journal of Neonatal Screening
  2. Volume: 1
  3. Issue: 1
  4. Mini-Review: Challenges in Newborn Screening for Urea Cycle Disorders
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Volume: 4
Volume: 3
Volume: 2
Volume: 1
Issue: 3
Issue: 2
Issue: 1
Improved Identification of Partial Biotinidase Deficiency by Newborn Screening Using Age-Related Enzyme Activity Cutoffs: Reduction of the False-Positive Rate
Early Diagnosis of Children with Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency by Newborn Screening
Mini-Review: Challenges in Newborn Screening for Urea Cycle Disorders
The Newborn Screening Quality Assurance Program at the Centers for Disease Control and Prevention: Thirty-Five Year Experience Assuring Newborn Screening Laboratory Quality
The Story of Biotinidase Deficiency and Its Introduction into Newborn Screening: The Role of Serendipity
Welcome to the International Journal of Neonatal Screening

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

Content Provider MDPI
Author Rüfenacht, Véronique Häberle, Johannes
Abstract 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.
File Size 274432
Ending Page 35
Page Count 9
Starting Page 27
File Format PDF
e-ISSN 2409515X
DOI 10.3390/ijns1010027
Journal International Journal of Neonatal Screening
Issue Number 1
Volume Number 1
Language English
Publisher Date 2015-05-28
Access Restriction Open
Subject Keyword newborn screening urea cycle disorders hyperammonemia nitrogen metabolism citrulline glutamine neonatal screening
Content Type Text
Resource Type Article
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