TY - JOUR
T1 - Suggested guidelines for the diagnosis and management of urea cycle disorders
T2 - first revision
AU - Häberle, Johannes
AU - Burlina, Alberto
AU - Chakrapani, Anupam
AU - Dixon, Marjorie
AU - Karall, Daniela
AU - Lindner, Martin
AU - Mandel, Hanna
AU - Martinelli, Diego
AU - Pintos-Morell, Guillem
AU - Santer, René
AU - Skouma, Anastasia
AU - Servais, Aude
AU - Tal, Galit
AU - Rubio, Vicente
AU - Huemer, Martina
AU - Dionisi-Vici, Carlo
N1 - This article is protected by copyright. All rights reserved.
PY - 2019/4/14
Y1 - 2019/4/14
N2 - 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 harmonising good practices. It may also promote the identification of knowledge voids to be filled by future research. TAKE-HOME MESSAGE: This is the first revision of the urea cycle disorders guideline after extensive revision of the previous work from 2012, this time developed based on GRADE methodology. This article is protected by copyright. All rights reserved.
AB - 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 harmonising good practices. It may also promote the identification of knowledge voids to be filled by future research. TAKE-HOME MESSAGE: This is the first revision of the urea cycle disorders guideline after extensive revision of the previous work from 2012, this time developed based on GRADE methodology. This article is protected by copyright. All rights reserved.
U2 - 10.1002/jimd.12100
DO - 10.1002/jimd.12100
M3 - Review article
C2 - 30982989
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
SN - 0141-8955
ER -