caa a22 4500 467933324 CHVBK 20180406152949.0 cr unu---uuuuu 170328e20060401xx s 000 0 eng 10.1007/s10545-006-0358-0 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0358-0 Clinical approach to treatable inborn metabolic diseases: An introduction [Elektronische Daten] [J.-M. Saudubray, F. Sedel, J. Walter] Summary: In view of the major improvements in treatment, it has become increasingly important that in order for first-line physicians not to miss a treatable disorder they should be able initiate a simple method of clinical screening, particularly in the emergency room. We present a simplified classification of treatable inborn errors of metabolism in three groups. Group 1 includes inborn errors of intermediary metabolism that give rise to an acute or chronic intoxication. It encompasses aminoacidopathies, organic acidurias, urea cycle disorders, sugar intolerances, metal disorders and porphyrias. Clinical expression can be acute or systemic or can involve a specific organ, and can strike in the neonatal period or later and intermittently from infancy to late adulthood. Most of these disorders are treatable and require the emergency removal of the toxin by special diets, extracorporeal procedures, cleansing drugs or vitamins. Group 2 includes inborn errors of intermediary metabolism that affect the cytoplasmic and mitochondrial energetic processes. Cytoplasmic defects encompass those affecting glycolysis, glycogenosis, gluconeogenesis, hyperinsulinisms, and creatine and pentose phosphate pathways; the latter are untreatable. Mitochondrial defects include respiratory chain disorders, and Krebs cycle and pyruvate oxidation defects, mostly untreatable, and disorders of fatty acid oxidation and ketone bodies that are treatable. Group 3 involves cellular organelles and includes lysosomal, peroxisomal, glycosylation, and cholesterol synthesis defects. Among these, some lysosomal disorders can be efficiently treated by enzyme replacement or substrate reduction therapies. Physicians can be faced with the possibility of a treatable inborn error in an emergency, either in the neonatal period or late in infancy to adulthood, or as chronic and progressive symptoms - general (failure to thrive), neurological, or specific for various organs or systems. These symptoms are summarized in four tables. In addition, an extensive list of medications used in the treatment of inborn errors is presented. SSIEM and Springer, 2006 Saudubray J.-M Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker Enfants-Malades, Université René Descartes, 149 rue de Sèvres, 75743, Paris Cedex 15, France aut Sedel F. Fédération des Maladies du Système Nerveux, Hôpital Pitié-Salpétrière, AP-HP, Paris, France aut Walter J. Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, UK aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/2-3(2006-04-01), 261-274 0141-8955 29:2-3<261 2006 29 10545 https://doi.org/10.1007/s10545-006-0358-0 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0358-0 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Saudubray J.-M Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker Enfants-Malades, Université René Descartes, 149 rue de Sèvres, 75743, Paris Cedex 15, France aut NATIONALLICENCE 700 1- Sedel F. Fédération des Maladies du Système Nerveux, Hôpital Pitié-Salpétrière, AP-HP, Paris, France aut NATIONALLICENCE 700 1- Walter J. Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, UK aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/2-3(2006-04-01), 261-274 0141-8955 29:2-3<261 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer