ERNDIM Workshop, Madrid, 2025

Meeting Documents

ERNDIM Workshop Programme

Lysosomal metabolism & Lipids

Alfonso de Oyarzabal – Cell trafficking and autophagy in neurometabolic disorders

Sara Boenzi – History and updates on the use of Biomarkers in lysosomal diseases: FABRY, GAUCHER, NPC, ASMD

Michael Gelb – Analysis of Endogenous-NRE GAG Biomarkers Provides the Most Reliable Method for Reducing False Positives in Newborn Screening for MPS Disorders and for Callibration of Values Across Multiple Reference Laboratories

The role of ERNDIM in current and future EQAs

Rafa Artuch – Chairs Update

Christine Vianey Saban – ERNDIM DPT Common Sample 2025

Susan Goorden – Introduction to the Lipids in Serum Scheme

George Ruijter – Critical errors

Session 2 Rare and Interesting cases

Cristiano Rizzo – Rare and Interesting Cases Part 1

Cristiano Rizzo – Rare and Interesting Cases Part 2

ERNDIM Scheme Workshops

DPT Czech Republic Workshop

DPT France Workshop

DPT Netherlands Workshop

DPT Switzerland Workshop

DPT United Kingdom Workshop

ERNDIM QLOU Workshop

ERNDIM AAI Workshop

Oral Abstracts

Bram Decru – From Concept to Feasibility Functional Mitochondrial Diagnostics via a Single Blood Sample

James Cooper – KS-462-282 An alternative Krabbe Disease biomarker with excellent diagnostic potential

Kate Neal – Adaptation of a UPLC-MS/MS Method for the Analysis of Glycosaminoglycan Fragments for the Diagnosis of Mucopolysaccharidosis in a UK Clinical Laboratory

Mercedes del Valle Sanz – Study of a Patient with Symptoms Compatible with Niemann-Pick Disease Type C but with Intermediate Levels of Lysosphingomyelin-509 and a Genetic Carrier of NPC1

Pablo Martínez Peregrina – Implication of neurotransmitter analysis on the diagnosis of SCN2A-Related disorder: Diagnostic and therapeutic considerations

Małgorzata Rogozińska – The effect of maternal methyl-DOPA and other exo- and endogenous interfering substances on the results of 3-O-methyl-DOPA determinations and therefore, the screening for AADC deficiency

Ewa Wielogórska – Determining cut-off values to increase selectivity and specificity in X-ALD testing within at-risk populations

Poster Presentations

Vincenzo Bellavia – Megdel syndrome associated with secondary 3-methylglutaconic aciduria: a case report of early neonatal diagnosis

Sonia Pajares – 4-Years-old Girl with Splenomegaly and Intermitent Thrombopenia with More than Two Years of Evolution

Chrysoula Kanakaki – Urine Organic Acid Analysis by GC-MS: The Need for Methodological Rigor Amidst Diagnostic & Technological Challenges

Pitrone M – Analysis of urinary organic acid profiles in children with autism spectrum disorders: a case-control study

Vincenzo Bellavia – Diagnosis of Classic Homocystinuria in a Pediatric Patient with a Complex Phenotype: Clinical Case and Multidisciplinary Approach

Gülsüm Feyza TÜRKEŞ – Determination of Cut-off Values Using the MOM Approach in Lysosomal Storage Diseases in Turkey: Findings from a Newborn Frequency Study

Emilio Vaena – MPS II models for the study of joint and bone pathophysiology developed by CRISPR/Cas9 technology

Inga Cytrych – Integrated instrumental and statistical approach for improved diagnostics of inborn errors of metabolism using acylcarnitine profiling