{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T13:45:07Z","timestamp":1792763107474,"version":"4.5.0"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,2,6]],"date-time":"2025-02-06T00:00:00Z","timestamp":1738800000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>There are still few centres, which specialise in the care of adults with inborn errors of metabolism (IEM). All physicians who participated in the SSIEM adult metabolic physicians group paper in 2014 were contacted to provide updated data on their IEM patients. Fifteen adult centres responded to our survey with information on their patients. Nine thousand, six hundred fifty\u2010one patients were included in the final cohort, compared with 6\u2009182 in the previous analysis. There were 394 separate diagnoses. The most common diseases were phenylketonuria (19.6%), mitochondrial disorders (12.3%) and lysosomal storage disorders such as Fabry disease (20.1% of LSD's), Pompe disease (3.1%), and Gaucher disease (2.8%). Among the disorders that can present with acute metabolic decompensation, the urea cycle disorders (4.0%), were most common (ornithine transcarbamylase deficiency 2.6%), followed by maple syrup urine disease (1.1%) and glycogen storage disease type I (0.7%). Patients were frequently diagnosed as adults, particularly those with mitochondrial disease and lysosomal storage disorders. Many patients are only diagnosed in adulthood (&gt;\u200940%) and the cohort is increasing substantially with 9\u2009651 patients included in the final analysis (34% increase compared to our original paper). Thus reinforcing the need for adult specialists to be trained in this area.<\/jats:p>","DOI":"10.1002\/jimd.70005","type":"journal-article","created":{"date-parts":[[2025,2,6]],"date-time":"2025-02-06T07:24:21Z","timestamp":1738826661000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10\u2009Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group"],"prefix":"10.1002","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9700-7898","authenticated-orcid":false,"given":"Michel","family":"Tchan","sequence":"first","affiliation":[{"name":"Westmead Hospital  Sydney Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Lehman","sequence":"additional","affiliation":[{"name":"Vancouver General Hospital  Vancouver Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"van Dussen","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism. Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism (AGEM) Research Institute University of Amsterdam  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janneke G.","family":"Langendonk","sequence":"additional","affiliation":[{"name":"Center for Lysosomal and Metabolic Diseases, Department of Internal Medicine, Erasmus MC Erasmus University Medical Center  Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirian C. H.","family":"Janssen","sequence":"additional","affiliation":[{"name":"Radboud University Nijmegen Medical Centre  Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirjam","family":"Langeveld","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism. Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism (AGEM) Research Institute University of Amsterdam  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Murphy","sequence":"additional","affiliation":[{"name":"Charles Dent Metabolic Unit  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryony","family":"Ryder","sequence":"additional","affiliation":[{"name":"Adult and Paediatric National Metabolic Service, Te Toka Tumai Te Whatu Ora\u2013Health New Zealand  Auckland New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Glamuzina","sequence":"additional","affiliation":[{"name":"Adult and Paediatric National Metabolic Service Te Whatu Ora\u2013Health New Zealand  Auckland New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Merkel","sequence":"additional","affiliation":[{"name":"Asklepios Klinik St. Georg  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalisa","family":"Sechi","sequence":"additional","affiliation":[{"name":"Regional Coordinating Centre for Rare Diseases University Hospital of Udine  Udine Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Baptiste","family":"Arnoux","sequence":"additional","affiliation":[{"name":"H\u00f4pital Necker\u2010Enfants Malades  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fanny","family":"Mochel","sequence":"additional","affiliation":[{"name":"Reference Center for Neurometabolic Diseases in Adults La Piti\u00e9\u2010Salp\u00eatri\u00e8re University Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gonnie","family":"Alkemade","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism. Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism (AGEM) Research Institute University of Amsterdam  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francois","family":"Maillot","sequence":"additional","affiliation":[{"name":"Tours University Hospital  Tours France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elsa","family":"Kaphan","sequence":"additional","affiliation":[{"name":"Assistance Publique H\u00f4pitaux de Marseille  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Mazodier","sequence":"additional","affiliation":[{"name":"Hopital Timone Enfants  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Quentin","family":"Thomas","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire de Dijon  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa","family":"Leguy\u2010Seguin","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire de Dijon  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Marelli","sequence":"additional","affiliation":[{"name":"MMDN, University Montpellier, EPHE, INSERM and Expert Center for Neurogenetic and Metabolic Diseases in Adults  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,2,6]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2015_435"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21217"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.10.002"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-11-19"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-013-9659-2"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(05)67635-0"},{"key":"e_1_2_10_8_1","volume-title":"Cystic Fibrosis Foundation Patient Registry 2020 Annual Data Report","author":"Cystic Fibrosis Foundation","year":"2021"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/nu13030799"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-8587(18)30369-3"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12312"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.70005","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T05:41:38Z","timestamp":1762839698000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.70005"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,6]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["10.1002\/jimd.70005"],"URL":"https:\/\/doi.org\/10.1002\/jimd.70005","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,6]]},"assertion":[{"value":"2024-11-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-22","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-06","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70005"}}