Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

Johannes Häberle, Alberto Burlina, Anupam Chakrapani, Marjorie Dixon, Daniela Karall, Martin Lindner, Hanna Mandel, Diego Martinelli, Guillem Pintos-Morell, René Santer, Anastasia Skouma, Aude Servais, Galit Tal, Vicente Rubio, Martina Huemer, Carlo Dionisi-Vici

Research output: Contribution to journalReview articleResearchpeer-review

51 Citations (Scopus)

Abstract

© 2019 SSIEM In 2012, we published guidelines summarizing and evaluating late 2011 evidence for diagnosis and therapy of urea cycle disorders (UCDs). With 1:35 000 estimated incidence, UCDs cause hyperammonemia of neonatal (~50%) or late onset that can lead to intellectual disability or death, even while effective therapies do exist. In the 7 years that have elapsed since the first guideline was published, abundant novel information has accumulated, experience on newborn screening for some UCDs has widened, a novel hyperammonemia-causing genetic disorder has been reported, glycerol phenylbutyrate has been introduced as a treatment, and novel promising therapeutic avenues (including gene therapy) have been opened. Several factors including the impact of the first edition of these guidelines (frequently read and quoted) may have increased awareness among health professionals and patient families. However, under-recognition and delayed diagnosis of UCDs still appear widespread. It was therefore necessary to revise the original guidelines to ensure an up-to-date frame of reference for professionals and patients as well as for awareness campaigns. This was accomplished by keeping the original spirit of providing a trans-European consensus based on robust evidence (scored with GRADE methodology), involving professionals on UCDs from nine countries in preparing this consensus. We believe this revised guideline, which has been reviewed by several societies that are involved in the management of UCDs, will have a positive impact on the outcomes of patients by establishing common standards, and spreading and harmonizing good practices. It may also promote the identification of knowledge voids to be filled by future research.
Original languageEnglish
JournalJournal of Inherited Metabolic Disease
DOIs
Publication statusPublished - 1 Jan 2019

Keywords

  • ammonia
  • arginase 1
  • argininosuccinate lyase
  • argininosuccinate synthetase
  • carbamoylphosphate synthetase 1
  • GRADE
  • guidelines
  • hyperammonemia
  • hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
  • N-acetylglutamate synthase
  • ornithine transcarbamylase
  • UCD
  • urea cycle disorders

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