{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T10:45:10Z","timestamp":1789728310783,"version":"4.0.1"},"reference-count":33,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,2,27]],"date-time":"2019-02-27T00:00:00Z","timestamp":1551225600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100010659","name":"Erasmus Universitair Medisch Centrum Rotterdam","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:p>Organic acidurias (OAD) and urea\u2010cycle disorders (UCD) are rare inherited disorders affecting amino acid and protein metabolism. As dietary practice varies widely, we assessed their long\u2010term prescribed dietary treatment against published guideline and studied plasma amino acids levels. We analyzed data from the first visit recorded in the European registry and network for intoxication type metabolic diseases (E\u2010IMD, Chafea no. 2010 12 01). In total, 271 methylmalonic aciduria (MMA) and propionic aciduria (PA) and 361 UCD patients were included. Median natural protein prescription was consistent with the recommended daily allowance (RDA), plasma L\u2010valine (57%), and L\u2010isoleucine (55%) levels in MMA and PA lay below reference ranges. Plasma levels were particularly low in patients who received amino acid mixtures (AAMs\u2010OAD) and L\u2010isoleucine:L\u2010leucine:L\u2010valine (BCAA) ratio was 1.0:3.0:3.2. In UCD patients, plasma L\u2010valine, L\u2010isoleucine, and L\u2010leucine levels lay below reference ranges in 18%, 30%, and 31%, respectively. In symptomatic UCD patients who received AAM\u2010UCD, the median natural protein prescription lay below RDA, while their L\u2010valine and L\u2010isoleucine levels and plasma BCAA ratios were comparable to those in patients who did not receive AAM\u2010UCD. Notably, in patients with ornithine transcarbamylase syndrome (OTC\u2010D), carbamylphosphate synthetase 1 syndrome (CPS1\u2010D) and hyperammonemia\u2010hyperornithinemia\u2010homocitrullinemia (HHH) syndrome selective L\u2010citrulline supplementation resulted in higher plasma L\u2010arginine levels than selective L\u2010arginine supplementation. In conclusion, while MMA and PA patients who received AAMs\u2010OAD had very low BCAA levels and disturbed plasma BCAA ratios, AAMs\u2010UCD seemed to help UCD patients obtain normal BCAA levels. In patients with OTC\u2010D, CPS1\u2010D, and HHH syndrome, selective L\u2010citrulline seemed preferable to selective L\u2010arginine supplementation.<\/jats:p>","DOI":"10.1002\/jimd.12066","type":"journal-article","created":{"date-parts":[[2019,2,8]],"date-time":"2019-02-08T11:15:30Z","timestamp":1549624530000},"page":"1162-1175","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":38,"title":["Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea\u2010cycle disorders: On the basis of information from a European multicenter registry"],"prefix":"10.1002","volume":"42","author":[{"given":"Femke","family":"Molema","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Center for Lysosomal and Metabolic Diseases Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian","family":"Gleich","sequence":"additional","affiliation":[{"name":"Division of Neuropaediatrics and Metabolic Medicine, Centre for Child and Adolescent Medicine University Hospital Heidelberg  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Burgard","sequence":"additional","affiliation":[{"name":"Division of Neuropaediatrics and Metabolic Medicine, Centre for Child and Adolescent Medicine University Hospital Heidelberg  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ans T.","family":"van der Ploeg","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Center for Lysosomal and Metabolic Diseases Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marshall L.","family":"Summar","sequence":"additional","affiliation":[{"name":"Department of Genetics and Metabolism, Children's National Medical Center  Washington District of Columbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly A.","family":"Chapman","sequence":"additional","affiliation":[{"name":"Department of Genetics and Metabolism, Children's National Medical Center  Washington District of Columbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivo","family":"Bari\u0107","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Hospital Center Zagreb and University of Zagreb, School of Medicine  Zagreb Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allan M.","family":"Lund","sequence":"additional","affiliation":[{"name":"Departments of Paediatrics and Clinical Genetics, Centre for Inherited Metabolic Diseases Copenhagen University Hospital, Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"K\u00f6lker","sequence":"additional","affiliation":[{"name":"Division of Neuropaediatrics and Metabolic Medicine, Centre for Child and Adolescent Medicine University Hospital Heidelberg  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4645-6612","authenticated-orcid":false,"given":"Monique","family":"Williams","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Center for Lysosomal and Metabolic Diseases Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Additional individual contributors from E\u2010IMD","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,2,27]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e318137a124"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.07.008"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2017.05.048"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.107"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.102"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCO.0000000000000428"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-7"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.09.003"},{"key":"e_1_2_10_10_1","first-page":"375","volume-title":"Clinical Pediatric Dietetics","author":"Dixon 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