Dietrich Matern MD, PhD

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.