Our program covers the following topics:

Inborn errors of metabolism in adultsDietetics and nutrition
Disorders of fatty acid oxidation and ketone body metabolismGlycosylation disorders/CDG, protein modification disorders
Novel diagnostic/laboratory methods including omicsPhenylketonuria
Mitochondrial disordersNeurotransmitter and creatine related disorders
Innovative therapies such as RNA-based therapy, gene therapy and regenerative medicineAmino acid disorders
Disorders of purines, pyrimidines, nucleic acids and porphyriasDisorders of vitamins, cofactors and trace elements
Metabolic myopathiesUrea cycle disorders
Peroxisomal, sterol, bile acid, lipid and lipoprotein metabolismNew Diseases
Newborn screeningOrganic acidurias
Lysosomal disordersClinical studies, patient reported outcome measures, outcome
Nursing in metabolic disorders