Lactic Acidosis and Energy Metabolism

Komrower Lecture: Abnormal cholesterol biosynthesis in sitosterolaemia and the Smith-Lemli-Opitz syndrome; G. Salen, et al. Genetic screening, testing and treatment: how far can we go? C.R. Scriver. Somatic gene therapy for phenylketonuria and other hepatic deficiencies; R.C. Eisensmith, S.L.C. Woo. Ethical reflections concerning genetic services. A paradigm for the future? C. Alonso. Metabolic fuel utilization and pyruvate oxidation during the postnatal period; J.M. Medina, et al. Regulation and function of the mitochondrial genome; S. Jeong-Yu, D.A. Clayton. Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex; B.H. Robinson, et al. Disorders of the electron transport chain; P.L. Adams, D.M. Turnbull. Disorders of gluconeogenesis; G. van den Berghe. Metabolic intermediates in lactic acidosis: compounds, samples and interpretation; F. Poggi-Travert, et al. Mitochondrial encephalomyopathies: what next? S. DiMauro. Neurological presentations of mitochondrial diseases; M. Zeviani, et al. Clinical presentation of mitochondrial disorders in childhood; A. Munnich, et al. Morphological studies of skeletal muscle in lactic acidosis; N.B. Romero, et al. Magnetic resonance imaging in lactic acidosis; M.S. van der Knaap, et al. The role of magnetic resonance spectroscopy in the investigation of lactic acidosis and inborn errors of energy metabolism; D.G. Gadian, J.V. Leonard. Neuropathology and pathogenesis of mitochondrial diseases; G.K. Brown, M.V. Squier. The treatment of congenital lactic acidosis; A.A.M. Morris, J.V. Leonard. Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism; W. Ruitenbeek, et al.