Society for the Study of Inborn Errors of Metabolism (SSIEM) 2027 Annual Symposium

Key Topics

• Dietetics and nutrition
• Inborn errors of metabolism in adults
• Glycosylation disorders/CDG, protein modification disorders
• Disorders of fatty acid oxidation and ketone body metabolism
• Phenylketonuria
• Novel diagnostic/laboratory methods including omics
• Neurotransmitter and creatine related disorders
• Mitochondrial disorders
• Amino acid disorders
• Innovative therapies such as RNA-based therapy, gene therapy and regenerative medicine
• Disorders of vitamins, cofactors and trace elements
• Disorders of purines, pyrimidines, nucleic acids and porphyrias
• Urea cycle disorders
• Metabolic myopathies
• New Diseases
• Peroxisomal, sterol, bile acid, lipid and lipoprotein metabolism
• Organic acidurias
• Newborn screening
• Clinical studies, patient reported outcome measures, outcome
• Lysosomal disorders
• Nursing in metabolic disorders