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Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.
- Source :
-
Journal of inherited metabolic disease [J Inherit Metab Dis] 2019 Nov; Vol. 42 (6), pp. 1192-1230. Date of Electronic Publication: 2019 May 15. - Publication Year :
- 2019
-
Abstract
- 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.<br /> (© 2019 SSIEM.)
- Subjects :
- Adult
Age of Onset
Child
Consensus
Endocrinology organization & administration
Endocrinology standards
Europe epidemiology
Humans
Hyperammonemia diagnosis
Hyperammonemia epidemiology
Hyperammonemia therapy
Infant, Newborn
Neonatal Screening methods
Neonatal Screening standards
Pediatrics organization & administration
Pediatrics standards
Urea Cycle Disorders, Inborn epidemiology
Practice Guidelines as Topic standards
Urea Cycle Disorders, Inborn diagnosis
Urea Cycle Disorders, Inborn therapy
Subjects
Details
- Language :
- English
- ISSN :
- 1573-2665
- Volume :
- 42
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Journal of inherited metabolic disease
- Publication Type :
- Academic Journal
- Accession number :
- 30982989
- Full Text :
- https://doi.org/10.1002/jimd.12100