Lactic Acidosis and Energy Metabolism

Lactic Acidosis and Energy Metabolism

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This text contains papers delivered at the 33rd Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, held in Toledo, Spain in 1995. Several contributions provide the biochemical background to energy metabolism. These include papers on metabolic fuel utilisation in different tissues (Medina) and mitochondrial function and biogenesis (Clayton), and in addition a general description of the neuropathogenesis of lactic acidosis (Brown). Mitochondrial defects which cause a large number of disorders of lactic acid metabolism are covered in a series of papers which discuss disorders of the electron transport chain (Robinson), molecular genetic studies (Di Mauro), neurological (Zevaini) and non-neurological presentation (Munnich). Clinical, laboratory and radiological investigation of patients with lactic acidosis are well described in papers on morphology (Romero), sampling and interpretation of metabolic intermediates (Saudubray), imaging (Van der Knaap) and spectroscopy (Gadian). Other disorders of lactate metabolism are reviewed in papers on gluconeogenesis (Van den Berghe), pyruvate carboxylase and pyruvate dehydrogenase (Robinson).
Advances in treatment (Leonard) and prenatal diagnosis and genetic counselling (Ruitenbeek) are also covered. Associated with the latter are contributions on genetic screening (Scriver), gene therapy (Eisensmith) and ethical problems in genetic screening (Estevil). Also in this volume is the Society's Komrower lecture on Inborn Errors of Cholesterol Biosynthesis (Salen).
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Product details

  • Paperback | 200 pages
  • United States
  • English
  • Reprinted from the Journal of and E 19:4, 1996 ed.
  • 0792387163
  • 9780792387169

Table of contents

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.
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