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The challenge of understanding and predicting phenotypic diversity in urea cycle disorders

The Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) are the worldwide largest databases for individuals with urea cycle disorders (UCDs) comprising longitudinal data from more than 1100 individuals with an overall long-ter...

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Main Authors: Posset, Roland (Author) , Zielonka, Matthias (Author) , Gleich, Florian (Author) , Garbade, Sven (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author)
Format: Article (Journal)
Language:English
Published: November 2023
In: Journal of inherited metabolic disease
Year: 2023, Volume: 46, Issue: 6, Pages: 1007-1016
ISSN:1573-2665
DOI:10.1002/jimd.12678
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1002/jimd.12678
Verlag, kostenfrei, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12678
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Author Notes:Roland Posset, Matthias Zielonka, Florian Gleich, Sven F. Garbade, Georg F. Hoffmann, Stefan Kölker, for the Urea Cycle Disorders Consortium (UCDC) and European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group
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Summary:The Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) are the worldwide largest databases for individuals with urea cycle disorders (UCDs) comprising longitudinal data from more than 1100 individuals with an overall long-term follow-up of approximately 25 years. However, heterogeneity of the clinical phenotype as well as different diagnostic and therapeutic strategies hamper our understanding on the predictors of phenotypic diversity and the impact of disease-immanent and interventional variables (e.g., diagnostic and therapeutic interventions) on the long-term outcome. A new strategy using combined and comparative data analyses helped overcome this challenge. This review presents the mechanisms and relevant principles that are necessary for the identification of meaningful clinical associations by combining data from different data sources, and serves as a blueprint for future analyses of rare disease registries.
Item Description:Online veröffentlicht: 13. September 2023
Gesehen am 18.12.2023
Physical Description:Online Resource
ISSN:1573-2665
DOI:10.1002/jimd.12678

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