1. Diagnostic delay in inherited metabolic diseases : insights from the U-IMD registryJulian Teinert, Florian Gleich, Viktor Kožich, Carlo Dionisi-Vici, Marcello Bellusci, Dorothea Haas, Pavel Ješina, Diego Martinelli, Patricia Pérez-Mohand, Alberto Burlina, 2026, izvirni znanstveni članek Povzetek: 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 one year. Diagnostic delay did not seem to have changed substantially within the last two 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.
Ključne besede: European Reference Network for Hereditary Metabolic Disorders, MetabERN, U-IMD, Unified European Registry for Inherited Metabolic Disorders, diagnostic odyssey, inherited metabolic diseases
Objavljeno v DiRROS: 23.04.2026; Ogledov: 275; Prenosov: 202
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2. International survey on Phenylketonuria newborn screeningDomen Trampuž, Peter C. J. I. Schielen, Rolf H. Zetterström, Maurizio Scarpa, François Feillet, Viktor Kožich, Trine Tangeraas, Ana Drole Torkar, Matej Mlinarič, Daša Perko, Žiga Iztok Remec, Barbka Repič-Lampret, Tadej Battelino, Urh Grošelj, 2025, izvirni znanstveni članek Povzetek: ewborn screening for Phenylketonuria enables early detection and timely treatment with a phenylalanine-restricted diet to prevent severe neurological impairment. Although effective and in use for 60 years, screening, diagnostic, and treatment practices still vary widely across countries and centers. To evaluate the Phenylketonuria newborn screening practices internationally, we designed a survey with questions focusing on the laboratory aspect of the screening system. We analyzed 24 completed surveys from 23 countries. Most participants used the same sampling age range of 48–72 h; they used tandem mass spectrometry and commercial non-derivatized kits to measure phenylalanine (Phe), and had non-negative cut-off values (COV) set mostly at 120 µmol/L of Phe. Participants mostly used genetic analysis of blood and detailed amino acid analysis from blood plasma as their confirmatory methods and set the COV for the initiation of dietary therapy at 360 µmol/L of Phe. There were striking differences in practice as well. While most participants reported a 48–72 h range for age at sampling, that range was overall quite diverse Screening COV varied as well. Additional screening parameters, e.g., the phenylalanine/tyrosine ratio were used by some participants to determine the screening result. Some participants included testing for tetrahydrobiopterin deficiency, or galactosemia in their diagnostic process. Results together showed that there is room to select a best practice from the many practices applied. Such a best practice of PKU-NBS parameters and post-screening parameters could then serve as a generally applicable guideline.
Ključne besede: phenylketonuria, newborn, neonatal, screening, international, survey, laboratory, methods, cut-off
Objavljeno v DiRROS: 04.12.2025; Ogledov: 3797; Prenosov: 342
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