Copertina

Diagnostic delay in inherited metabolic diseases: Insights from the U-IMD registry

Purpose - Early diagnosis and timely initiation of treatment have been shown to be crucial to improve clinical outcomes in individuals with inherited metabolic diseases (IMDs). However, comprehensive data on the diagnostic process and the potential diagnostic delay in IMDs are scarce. This study aim...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: Teinert, Julian (Autore) , Gleich, Florian (Autore) , Kozich, Viktor (Autore) , Dionisi-Vici, Carlo (Autore) , Bellusci, Marcello (Autore) , Haas, Dorothea (Autore) , Ješina, Pavel (Autore) , Martinelli, Diego (Autore) , Pérez-Mohand, Patricia (Autore) , Burlina, Alberto (Autore) , Rubert, Laura (Autore) , Couce, Maria-Luz (Autore) , Debray, Francois-Guillaume (Autore) , Roland, Dominique (Autore) , Gaspar, Ana (Autore) , Mohnike, Klaus (Autore) , Garbade, Sven (Autore) , Scarpa, Maurizio (Autore) , Nassogne, Marie-Cecile (Autore) , Tangeraas, Trine (Autore) , Gasperini, Serena (Autore) , García-Cazorla, Angeles (Autore) , Mütze, Ulrike (Autore) , Kölker, Stefan (Autore) , Azevedo, Olga (Autore) , De Laet, Corinne (Autore) , De Las Heras, Javier (Autore) , del Toro, Mireia (Autore) , Groselj, Urh (Autore) , Martins, Esmeralda (Autore) , Odent, Sylvie (Autore) , Pawliński, Łukasz (Autore) , Witters, Peter (Autore)
Natura: Article (Journal)
Lingua:inglese
Pubblicazione: May 2026
In: Genetics in medicine
Year: 2026, Volume: 28, Fascicolo: 5, Pages: 1-10
ISSN:1530-0366
DOI:10.1016/j.gim.2026.102554
Accesso online:Verlag, kostenfrei, Volltext: https://doi.org/10.1016/j.gim.2026.102554
Verlag, kostenfrei, Volltext: https://www.sciencedirect.com/science/article/pii/S1098360026008725
Testo
Note sull'autore:Julian Teinert, Florian Gleich, Viktor Kozich, Carlo Dionisi-Vici, Marcello Bellusci, Dorothea Haas, Pavel Ješina, Diego Martinelli, Patricia Pérez-Mohand, Alberto Burlina, Laura Rubert, Maria-Luz Couce, Francois-Guillaume Debray, Dominique Roland, Ana Gaspar, Klaus Mohnike, Sven F. Garbade, Maurizio Scarpa, Marie-Cecile Nassogne, Trine Tangeraas, Serena Gasperini, Angeles García-Cazorla, Ulrike Mütze, Stefan Kölker, on behalf of the U-IMD Consortium
Descrizione
Riassunto:Purpose - Early diagnosis and timely initiation of treatment have been shown to be crucial to improve clinical outcomes in individuals with inherited metabolic diseases (IMDs). However, comprehensive data on the diagnostic process and the potential diagnostic delay in IMDs are scarce. This study aims to systematically investigate the diagnostic process in IMDs. - Methods - Data were obtained from the Unified European registry for Inherited Metabolic Diseases (U-IMD), the patient registry of the European Reference Network MetabERN. - Results - Data were available for 3747 individuals with confirmed diagnosis of one of 345 IMDs. Median age at symptom onset was 120 days. The majority of participants were diagnosed after presenting with symptoms, median diagnostic delay in this group was 270 days, with 47.6% experiencing a diagnostic delay of at least 1 year. Diagnostic delay did not seem to have changed substantially within the last 2 decades in this cohort; however, it varied greatly among single IMDs and different IMD disease groups. - Conclusion - Diagnostic delay and concomitantly delayed start of specific therapies is a significant risk of poor outcome for individuals with IMDs, highlighting the urgent need to expand newborn screening programs and to establish (ultra-)rapid genome sequencing in critically ill children.
Descrizione del documento:Online verfügbar: 24. März 2026, Artikelversion: 22. April 2026
Gesehen am 17.08.2026
Descrizione fisica:Online Resource
ISSN:1530-0366
DOI:10.1016/j.gim.2026.102554

Documenti analoghi