Dietrich Matern, M.D., has a primary interest in the biochemical diagnosis of inborn errors of metabolism, particularly mitochondrial fatty acid beta-oxidation disorders, organic acidemias, amino acidopathies, lysosomal storage disorders and glycogen storage disorders.
Dr. Matern's research activities primarily involve the development and improvement of laboratory assays for the biochemical diagnosis and follow-up of patients with inborn errors of metabolism. A particular focus in recent years has been on newborn screening for several lysosomal storage disorders, Friedreich's ataxia, Wilson's disease and X-adrenoleukodystrophy.
He has also participated in the laboratory evaluation of animal models and clinical trials as a collaborator with colleagues at Mayo Clinic and other academic institutions. Dr. Matern's research has been funded by the National Institute of Child Health & Human Development (NICHD), the Newborn Screening Translational Research Network (NBSTRN), the Legacy of Angels Foundation, and other not-for-profit organizations.
