{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T08:09:07Z","timestamp":1792656547908,"version":"4.5.0"},"reference-count":14,"publisher":"Wiley","issue":"2-3","license":[{"start":{"date-parts":[[2006,3,6]],"date-time":"2006-03-06T00:00:00Z","timestamp":1141603200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2006,4]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    In view of the major improvements in treatment, it has become increasingly important that in order for first\u2010line 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.\n                    <jats:italic>Group 1<\/jats:italic>\n                    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.\n                    <jats:italic>Group 2<\/jats:italic>\n                    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.\n                    <jats:italic>Group 3<\/jats:italic>\n                    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 \u2013 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.\n                  <\/jats:p>","DOI":"10.1007\/s10545-006-0358-0","type":"journal-article","created":{"date-parts":[[2006,6,8]],"date-time":"2006-06-08T23:09:10Z","timestamp":1149808150000},"page":"261-274","source":"Crossref","is-referenced-by-count":136,"title":["Clinical approach to treatable inborn metabolic diseases: An introduction"],"prefix":"10.1002","volume":"29","author":[{"given":"J.\u2010M.","family":"Saudubray","sequence":"first","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme, H\u00f4pital Necker Enfants\u2010Malades Universit\u00e9 Ren\u00e9 Descartes  149 rue de S\u00e8vres Paris Cedex 15 75743 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Sedel","sequence":"additional","affiliation":[{"name":"F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux H\u00f4pital Piti\u00e9\u2010Salp\u00e9tri\u00e8re  AP\u2010HP Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. H.","family":"Walter","sequence":"additional","affiliation":[{"name":"Willink Biochemical Genetics Unit Royal Manchester Children's Hospital  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,3,6]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0269-0"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0299-7"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1998.tb01556.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000151976.60624.01"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1997.tb14825.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.72.4.349"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/500092"},{"key":"e_1_2_1_9_1","volume-title":"The Treatment of Inherited Metabolic Disease","author":"Raine DN","year":"1975"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0290-3"},{"key":"e_1_2_1_11_1","volume-title":"Diseases: Diagnosis and Treatment","author":"Saudubray JM","year":"2006"},{"key":"e_1_2_1_12_1","doi-asserted-by":"crossref","unstructured":"ValayannopoulosV VerhoevenNV MentionK et al (2006)Transaldolase deficiency: a new cause of hydrops foetalis and neonatal multiorgan disease.J Pediatr in press..","DOI":"10.1016\/j.jpeds.2006.08.016"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-0528.2004.00297.x"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-540-28785-8_5"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/431216"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0358-0","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0358-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T05:08:00Z","timestamp":1694754480000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-006-0358-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,3,6]]},"references-count":14,"journal-issue":{"issue":"2-3","published-print":{"date-parts":[[2006,4]]}},"alternative-id":["10.1007\/s10545-006-0358-0"],"URL":"https:\/\/doi.org\/10.1007\/s10545-006-0358-0","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,3,6]]}}}