XVI International Glycogen Storage Disease (GSD) Conference

Events, Education for Patients, News for Patients

The Spanish Association of GSD Patients (AEEG), member of our board of patient organisations, has recently organised the 16th International Conference on GSD. The conference was held with great success on October 3–4, 2025, at the University Hospital of Getafe. The event brought together healthcare professionals, researchers, patients, and families, reaffirming its role as one […]

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Rare disease, chronic pain and mental health: a patient’s story

News for Patients, Education for Patients, Events, News

What happens when your body is under siege, but the world can’t see the battle?Living with Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like episodes (MELAS) syndrome means navigating a rare, often invisible disease that reshapes every aspect of life. This Global Mental Health Day (October 10), we’re honored to share a patient’s story in a

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Chronic Pain and Mitochondrial Disease: Nanda’s Story and Expert Insights

News, Education for Patients, Education for Professionals, News for Patients

September shines a light on Mitochondrial Disease Awareness and Pain Awareness Month. Mitochondrial diseases impact around 1 in 5,000 individuals and often remain underdiagnosed and misunderstood. In recognition of Mitochondrial Disease Awareness Week (September 15–21) and Pain Awareness Month, we celebrate resilience by sharing an inspiring patient story alongside an expert-led presentation focused on chronic

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Upcoming Webinar: Think Ammonia! Test and Diagnosis of Hyperammonaemia in time

Events, Education, Education for Patients, Education for Professionals, News for Patients

Elevated ammonia levels in the blood may result from various inborn errors of metabolism and can cause neurological impairment or mortality. This represents a time-sensitive medical situation, and prompt testing, diagnosis and management are essential to prevent life threatening events. On September 18 at 17.00 CEST, MetabERN is hosting a webinar titled “Think Ammonia! Test

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One-Day International CTX Workshop Series

Events, Education for Patients, Education for Professionals, Networks

The CTX International Workshop Series will be held on Monday, September 1 in Kyoto, Japan as a satellite meeting, prior to the 2025 International Congress of Inborn Errors of Metabolism (ICIEM) taking place from 2 to 6 September 2025. On behalf of the CTX Alliance and the organizing committee, it is our pleasure to invite you

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Recognising Fabry Disease in Cardiology

Education, Education for Patients, Education for Professionals, News, News for Patients

As we wrap up Fabry Disease Awareness Month, the Antwerp University Hospital UZA, in collaboration with MetabERN, is excited to offer two free video lectures focused on recognizing Fabry disease in cardiology. These sessions are designed to empower cardiologists, general practitioners, internists, and specialists in metabolic diseases with the latest insights and knowledge from leading

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Online Webinar “Think Ammonia”

Education for Patients, Education, Education for Professionals, Events

Register for the Online Webinar “Think Ammonia” hosted by the Greek patient organisation Krikos Zois in collaboration with Metabolic Support UK and endorsed by MetabERN. Go to the registration page. Ammonia is a metabolite that is present in all living organisms. However, its potential danger as a silent predator is less well-known. We are pleased

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SanFilippo Webinar – Urgencies & Pain Management

Education for Patients, Education, Events, Past Event

The SanFilippo Fighters Patient Organisation and the European Reference Network for Inherited Metabolic Diseases (MetabERN) invite you to the first session of an exciting webinar series exploring various aspects of SanFilippo Syndrome. This webinar offers a unique opportunity to learn from the following leading experts in the field: Dr. Serena GasperiniIRCCS San Gerardo dei Tintori

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Online Workshop: The Extended Neonatal Screening (ENS): Multidisciplinary Approach and Psychological Support to the Family

Events, Education, Education for Patients

The Mariani Foundation Centre for Hereditary Metabolic Diseases of Childhood in Monza (Italy) is organizing the workshop “The Extended Neonatal Screening (ENS): Multidisciplinary Approach and Psychological Support to the Family” which will be held online on 8 April and on 15 April 2024. The Workshop aims: The Workshop will be conducted in Italian and receive accreditation

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Brain Metabolism Workshop – 6-7 July 2023

Education, Education for Patients, Education for Professionals, Events, Networks, News, News for Patients

From 6 to 7 July 2023, the MetabERN centre Sant Joan de Déu Hospital in Barcelona will host the Workshop: “Brain Metabolism Workshop: from rare diseases to common biological pathways”. This will be an excellent occasion for patients, clinicians, and researchers for sharing knowledge and new ideas on brain metabolism as a transversal approach for

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Liver Transplant for Inborn Errors of Metabolism – Sharing Knowledge Across ERNs

Education for Patients, Education for Professionals, Events, News

We are delighted to announce the Cross ERN Workshop (MetabERN – ERN TransplantChild – ERN RARE-LIVER) which will be held in Coimbra, Portugal on 8 to 9 June 2023. The workshop is aimed at paediatric, adult physicians, patient associations and patient advocacy organizations from three European Reference Networks and is supported by the EJP RD Support scheme for Networking

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