Additional Info

• Advisory Council Member:

  Prof Domingo González-Lamuño
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• National Societies:

  Spanish Society for Inborn Errors of Metabolism
  Asociación Española para el Estudio de los Errores Congénitos del Metabolismo (AECOM)
  
  Society Website
  www.aecom.com.es
   
  Annual Meeting
  Congreso Nacional de Errores Congénitos del Metabolismo (AECOM)
  AECOM Biennial Congress (National Meeting of AECOM)
  October (Biennial conference)

  Next meetings:
  Zaragoza (2025), Sevilla (2027), Malaga (2029)

  Scope and target audience:
  The society includes paediatricians, neuropediatricians, gastroenterologists, biochemists, dieticians and other scientists interested in IEM.

  Purpose:
  Facilitate interaction among professionals involved in diagnosis, treatment, follow-up and research of IEM; promote research, scientific cooperation and training in newborn screening. 

  Committee Members
  
  President
  Dr. Paula Sanchez Pintos
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  Secretary
  Dr. Maria Unceta Suarez
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  Treasurer
  Dr. Eva Venegas Moreno
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• About the Society:

  The Spanish Society for the Study of Inborn Errors of Metabolism (AECOM) — Asociación Española para el Estudio de los Errores Congénitos del Metabolismo — was formally founded in 1999, following several years of collaboration among Spanish clinicians and biochemists working in the field of inherited metabolic diseases.
  The first national congress on inborn errors of metabolism in Spain was held in 1995, marking the beginning of what would later become the official AECOM Biennial Congress.

  Aims and Objectives

  AECOM’s mission is to promote excellence in clinical care, diagnosis, and research in the area of inborn errors of metabolism (IEM). Its main objectives are to:

  – Encourage scientific research and innovation in the field of metabolic medicine.
  – Foster collaboration among healthcare professionals involved in the diagnosis, treatment, and long-term management of metabolic disorders, including paediatricians, clinical biochemists, geneticists, and dietitians.
  – Promote education and professional training through congresses, workshops, and continuing education programmes.
  – Support the implementation and improvement of neonatal screening and early diagnostic programmes throughout Spain.
  – Represent Spanish specialists in international networks and scientific societies related to metabolic medicine.

  
  Membership and Structure

  AECOM currently includes approximately 250–300 members, representing a multidisciplinary group of professionals — paediatricians, neurologists, laboratory scientists, geneticists, dietitians, and researchers — from major hospitals and academic institutions throughout Spain.

   
  Activities

  AECOM organises and supports a wide range of scientific and educational activities, including:

  • The Biennial National Congress, which gathers Spanish and international experts in metabolic medicine.
  • Workshops and scientific courses focused on metabolic diagnostics, dietetic management, and emerging therapies.
  • Support for collaborative multicentre research projects on rare and inherited metabolic disorders.
  • Publication and dissemination of updates, clinical guidelines, and best practices within the metabolic community.

   
  Affiliations and Collaborations

  AECOM maintains strong links with numerous national and international scientific organizations devoted to advancing knowledge and improving care for patients with inherited metabolic diseases:
  – SSIEM (Society for the Study of Inborn Errors of Metabolism):
  The leading international umbrella organization connecting professionals and national societies in metabolic medicine and research.
  – MetabERN (European Reference Network for Hereditary Metabolic Disorders):
  A European Commission–supported network that integrates expert centres to improve diagnosis, management, and care for patients with rare metabolic diseases.
  – ERNDIM (European Research Network for Evaluation and Improvement of Screening, Diagnosis and Treatment of Inherited Disorders of Metabolism):
  A collaborative network promoting external quality assurance, training, and harmonisation of laboratory diagnostic practices in metabolic medicine.
  – Spanish scientific societies, including:

  The Spanish Paediatric Association (AEP)
  The Spanish Society of Gastroenterology, Hepatology and Nutrition (SEGHNP)
  The Spanish Society of Endocrinology and Nutrition (SEEN) — collaborating particularly in areas of metabolic and endocrine disorders, transition to adult care, and dietary management.
  The Spanish Society of Internal Medicine (SEMI) — particularly through its Working Group on Minority and Rare Diseases, which fosters multidisciplinary collaboration for adult patients with inherited metabolic diseases.

  – SIMMESN (Società Italiana per lo Studio delle Malattie Metaboliche Ereditarie e lo Screening Neonatale, Italy):
  The Italian society dedicated to inherited metabolic diseases and neonatal screening, with which AECOM exchanges scientific expertise and participates in joint European initiatives.
  – SPDM (Sociedade Portuguesa de Doenças Metabólicas, Portugal):
  The Portuguese society for metabolic disorders, collaborating with AECOM on professional education and joint Iberian scientific events.
  – AAECM (Asociación Argentina de Errores Congénitos del Metabolismo, Argentina):
  The Argentine society promoting research, education, and multidisciplinary management of inborn errors of metabolism in Latin America, maintaining active scientific and professional exchange with AECOM.

  
  Dietitians Group
  

  Within the structure of AECOM, the Nutrition Group (Grupo de Nutrición de AECOM) plays a central role in the dietary management and nutritional follow-up of patients with inherited metabolic diseases.
  The group brings together dietitians, nutritionists, physicians, and biochemists from metabolic units throughout Spain who share expertise in the nutritional treatment of inborn errors of metabolism (IEM).

  Its main objectives are to:

  – Promote the standardization of dietary protocols and nutritional monitoring of patients with metabolic disorders.
  – Develop and update clinical practice guidelines for the dietary management of specific conditions, such as phenylketonuria (PKU), organic acidemias, urea cycle disorders, and fatty-acid oxidation defects.
  – Provide training and continuing education for professionals involved in nutritional therapy for IEM.
  – Collaborate with national and international initiatives in research and clinical trials related to medical nutrition.
  – Support patients and families through the dissemination of evidence-based information and educational materials.
  – The AECOM Nutrition Group also organizes dedicated sessions during the Biennial AECOM Congress, and maintains an active platform for professional exchange through its official website: www.aecom.com.es

  
  Adults Metabolic Physicians Group
  

  The Adult Metabolic Physicians Group within AECOM brings together specialists dedicated to the clinical care of adult patients with inherited metabolic diseases (IEM).
  As advances in neonatal screening and paediatric management have increased survival, a growing number of individuals with IEM are reaching adulthood and require specialised long-term multidisciplinary care.

  The group’s main aims are to:

  – Coordinate and promote the continuity of care from paediatric to adult metabolic units.
  – Develop and disseminate guidelines and best practice recommendations for the management of adult patients with IEM.
  – Encourage the creation and strengthening of adult metabolic reference units within tertiary hospitals in Spain.
  – Foster collaborative clinical research addressing the natural history, complications, and long-term outcomes of metabolic diseases in adulthood.
  – Promote training and education in adult metabolic medicine among internists, endocrinologists, and other specialists involved in the multidisciplinary management of these disorders.

  The group works in close cooperation with the Spanish Society of Internal Medicine (SEMI) — through its Working Group on Minority and Rare Diseases — and with the Spanish Society of Endocrinology and Nutrition (SEEN), ensuring an integrated approach to the care of adult patients with inborn errors of metabolism.

  
  Additional Information
  

  AECOM is an active member of the international community dedicated to inherited metabolic diseases. Through its biennial congresses, specialized working groups, and collaborative projects, the society promotes scientific exchange and contributes to the advancement of metabolic medicine both nationally and internationally.

  AECOM maintains strong engagement with European and Latin American partners to harmonize diagnostic standards, facilitate cross-border collaboration, and promote access to high-quality care for patients with rare metabolic disorders. Its working groups — including the Adult Metabolic Physicians Group and the Nutrition Group — ensure continuity of care across all ages and integrate nutritional, biochemical, and clinical expertise.

  The society’s official website provides updated information on educational activities, congresses, and professional resources: www.aecom.com.es

  AECOM’s vision is to strengthen research, education, and patient care in the field of inborn errors of metabolism, fostering a truly multidisciplinary network that connects clinicians, laboratory specialists, nutritionists, and researchers across Spain and beyond.

  Specialized Working Groups

  In addition to its Nutrition and Adult Metabolic Physicians Groups, AECOM includes several specialized working groups that coordinate national efforts in specific areas of inherited metabolic medicine:

  Urea Cycle Disorders Group

  This group focuses on improving the diagnosis, treatment, and follow-up of urea cycle defects, a group of rare but severe inborn errors of nitrogen metabolism.
  Its objectives include:

  – Developing national consensus guidelines for acute and chronic management.
  – Promoting standardized protocols for biochemical and genetic diagnosis.
  – Encouraging collaborative research on long-term outcomes, liver transplantation, and novel therapeutic approaches.
  – Providing educational resources for clinicians and metabolic units across Spain.

  The group works closely with paediatric metabolic units and international expert networks such as MetabERN.

  Lysosomal Diseases Group

  The Lysosomal Diseases Group addresses a broad spectrum of lysosomal storage disorders (LSDs) including Gaucher disease, Fabry disease, Pompe disease, and mucopolysaccharidoses (MPS).
  Its activities focus on:

  – Facilitating multidisciplinary collaboration between metabolic physicians, geneticists, neurologists, and other specialists.
  – Promoting access to diagnostic testing and enzyme assays.
  – Supporting registries and research projects aimed at understanding the natural history and treatment outcomes of lysosomal diseases.
  – Encouraging the use of biomarkers and therapeutic monitoring to improve patient care.

  This group collaborates with national reference centers and contributes to European rare disease networks.